Genetic abnormalities by Aamir khan pameer

Prepared By: Aamir khan Pameer

Lecturer: Aamir Khan Pameer
Rokhan Institute of Higher
Education
‫مـــوســسه‬ ‫کـــړو‬ ‫زده‬ ‫لــوړو‬ ‫د‬ ‫روښــــــان‬
Subject: Genetics
Email Address: Pameer1987@gmail.com Mobile#:
Genetic
Abnormalities

‫پيغام‬
‫تر‬‫څو‬‫چي‬‫ځان‬‫ته‬‫ارزښت‬‫ور‬‫نه‬‫کړو‬،‫هيڅ‬‫کوم‬‫بل‬‫څوک‬‫مونږ‬‫ته‬
‫ارزښت‬‫نشي‬‫راکولې‬.‫ارزښتموند‬‫نه‬‫يواځې‬‫په‬‫علميت‬،‫مهارتونو‬،‫ر‬‫وغ‬
‫ژوند‬‫او‬‫مثبت‬‫فکر‬‫سره‬‫ترالسته‬‫کيدلي‬‫شي‬.
‫د‬‫بي‬‫ارزښته‬‫ژوند‬‫مثال‬‫د‬‫يو‬‫سوځيدلي‬‫رڼا‬‫ګروپ‬(‫اليټ‬)،‫دي‬‫چي‬‫هي‬‫څ‬
‫ګټه‬‫ترې‬‫نه‬‫اخستل‬‫کېږي‬‫او‬‫هسې‬‫يي‬‫ځايه‬‫نيولي‬‫وي‬.
‫پامير‬

Down syndrome

Baby demonstrates the typical features of
Down syndrome

Brushfield spots

Brachycephaly

Simian Crease, Trisomy 21

Short broad hand

Gap between first and second toes

Down Syndrome

History
 Named after a physician, “John Langdon Down” in 18th century.
 Described as Mongoloid child of European parentage-”Mongolism”
 In 1959 a French doctor, named “Jerome Lejeune”, discovered it was
caused by the inheritance of an extra chromosome 21.
 Also known as “trisomy 21”

Incidence
Incidence classified according to
3 major ethnic groups
Malay - 1 in 981
Chinese - 1 in 940
Indians - 1 in 860

Introduction
Down syndrome is an autosomal
disorder because it affects
chromosome 21, which is an
autosome.
Down syndrome is neither a dominant
nor recessive trait because it is just
an error in the “translation” process
of chromosome 21.Prepared By: Aamir khan Pameer

Genetics of DS
 It is believed that the ‘amyloid precursor protein gene (App)’ is the cause
of ‘Down syndrome’, and it is located on chromosome 21.
 A mutation in this gene usually results in Alzheimer’s disease . Similarly
three copies of this gene has a huge effect on the brain & other tissues of
body.
 Scientists believe that excess ‘App’ gene is causing the cells to die
(apoptosis), because it interfere with the normal cell division (mitosis).
 Therefore people with down syndrome tend to develop the brain with signs
of Alzheimer’s and abnormalities other parts of the body.

92% -94% Trisomy 21
- nondisjunction during
fertilisation
2-4% Mosaicism
- error in cell division
after fertilisation
3-4% Translocation of
chromosome 21
- breaking and
attaching to other
chromosomes (14)
during cell divisionPrepared By: Aamir khan Pameer

Down Syndrome & Maternal Age
Age Incidence of Down
Syndrome
< 30
30
35
36
37
38
39
40
42
44
46
48
49
Less than 1 in 1000
1 in 900
1 in 400
1 in 300
1 in 230
1 in 180
1 in 135
1 in 105
1 in 60
1 in 35
1 in 20
1 in 16
1 in 12
A study done in Mysore,
India - paternal age and
maternal grandmother’s
age influences Down
Syndrome in neonates.

Risk factors
Advancing maternal age – usually
women of age 35 and above
Mothers who already have one
child with Down syndrome –
increased risk for subsequent
pregnancies
Parents who are carriers of the
genetic translocation for Down
syndromePrepared By: Aamir khan Pameer

Clinical features
 Life expectancy : 55 years
(National Down Syndrome Society)
 Physical appearances
 flat facial profile and an upward slant to the eye
 short neck
 abnormally shaped ears
 white spots on the iris of the eye (called Brushfield
spots)
 single, deep transverse crease on the palm of the hand.

- relatively late development of
deciduous and permanent teeth as compared with other
children
- Teeth could appear in a different sequence and positions
- Teeth are often are rounded, pointed or cone-shaped.
Smaller with gaps
- Fewer teeth.
- Maxilla is narrow, the tongue appears too big for the
mouth and the teeth may be pushed out of place, as the
child grows older.
- Habit of breathing through the mouth
- Mental retardation varied from mild to
moderate – some even have special
abilities after training
and early interventions

Neonatal features
 Flat facial profile
 Poor Moro reflex
 Excessive skin at
the nape of neck
 Slanted palpebral
fissures
 Hypotonia
 Hyper flexibility
of joints
 Dysplasia of pelvis
 Anomalous ears
 Dysplasia of
midphalanx of
fifth finger
 Transverse palmer
crease(simian)

Percentage of dysmorphic features and physical abnormalities in
‘Down syndrome’ children
Dysmorphic features Current
study (%)
Kava
et al
(%)
Kumar
et al
(%)
Jones
(%)
Fryns
(%)
Upslanting palpebral fissures
Flat facial profile
Ears abnormality
Hypotonia
Simian crease
Sandle sign
Hypertelorism
Short stubby fingers
Protruding tongue
Clinodactyly
Epicanthic folds
Excessive skin fold on neck
89.3
64.9
56.1
52.6
36.8
33.3
33.3
24.5
19.2
19.2
17.5
12.2
83.9
50.9
66.9
76.3
33.2
46.2
33.9
-
29.9
36.1
56.9
36.8
-
-
-
80
40
-
-
-
-
50
60
-
80
90
60
80
45
-
-
-
-
50
-
80
80
90
50
21-77
48
45
-
-
-
62
40
81/85

Other Health-related problems
 Cardiovascular problems
 ventricular spetal defect, atrial septal defect, patent ductus arteriosus
 Endocrine problems
 thyroid problems, diabetes mellitus
 Gastrointestinal problems
 duodenal, esophageal and anal atresia,Hirschprung’s disease
 Haematological problems
 Acute leukemia, transient myeproliferative disease
 Neurological problems
 Epilepsy, severe behavioral problems, Alzheimer’s, memory problems

 Sleep problems
 Sleep apnoea, other sleep disturbance
 Skeletal problems
 Flat foot, atlantoaxial subluxation
 Visual problems
 Refractive disorder, squint, nystagmus
 Hearing problems
 Hearing loss, conductive hearing loss, chronic otitis media
- Obesity and nutrient deficiency
- Malabsorption (probably linked with celiac disease) due to intestinal
damage
- Some has lack of vitamin B12, folic acid and zinc
- Need for antioxidants i.e. vitamin E

Mental Retardation
 Almost all DS babies have MR.
 Mildly to moderately retarded .
 Starts in the first year of life.
 Average age of sitting(11 mon), and walking (26 mon) is twice the typical
age.
 First words at 18 months.
 IQ declines through the first 10 years of age, reaching a plateau in
adolescence that continues into adulthood.

Heart Disease
 50 % of Down Syndrome pts have heart disease
 Endocardiac cushion defects
 VSD
 Secundum ASD
 PDA
 Tetrology of Fallot
 Mitral valve prolapse
 AR, MR

GI abnormalities
 5% of cases
 Duodenal atresia or stenosis, sometimes assoc with annular pancreas in 2.5
% of cases
 Imperforate anus
 Esophageal atresia with TE fistula is less common
 Hirschsprung’s disease
 Strong assoc with celiac disease between 5 – 16 % ,

Growth
Weight, length and HC are less in DS
Reduced growth rate
Prevalence of ‘obesity’ is greater in
DS
Weight is less than expected for
length in ‘infants’ with DS, and then
increases disproportionally so that
they are obese by age 3-4 yrsPrepared By: Aamir khan Pameer

Eye problems
Most common disorders are
 Refractory error – 35 to 76 %
Strabismus – 25 to 57 percent
Nystagmus – 18 to 22 percent
Cataract occur in 5 % of newborns,
Frequency increases with age.

Brush field spots

Hearing loss
Unilateral or bilateral
Conductive, sensorineural or
mixed
Otitis media is a frequent
problem

Hematologic disorders
 The risk of leukemia is 1 to 1.5 percent.
 65% of newborn have polycythemia resulting in hypoglycemia.
 Risk of AML and ALL is also much higher than the general population.
 Transient leukemia – exclusively affects NB.
- It is asymptomatic with spontaneous resolution in 2-3 months.

Endocrine disorder
Thyroid disease –
Hypothyroidism occurs more
frequently than hyperthyroidism.
Diabetes –
The risk of type 1 diabetes is
three times greater than that of
the general population.

Reproduction
Women with DS are fertile and may
become pregnant.
Nearly all males with DS are
infertile. Due to impaired
‘spermatogenesis’.

Skeletal abnormalities
Excessive mobility of atlas (C1) and the
axis (C2), may lead to subluxation of
the cervical spine. (Atlantoaxial
instability )
Diagnosis made by lateral neck
radiograph.
flat foot, dysgenesis of middle phalax
in little finger, narrow maxilla,
clindactyly.

Skin disorder
Palmoplantar hyperkeratosis
Seborreic dermatitis
Fissured tongue
Cutis marmorata
Geographical tongue
Xerosis

Diagnosis
 Prenatal screening
 If no screening – It can be recognized by the characteristic phenotypic
features.
 Confirmed by genetic Karyotyping.

Management
1.Growth– Measurements should be plotted on the appropriate growth
chart for children with DS.
 This will help in prevention of obesity and early diagnosis of celiac disease and
hypothyroidism.
2. Cardiac disease – All newborns should be evaluated by
cardiac ECHO for CHD in consultation with pediatric cardiologist.
3. Hearing – Screening to be done in the newborn period, every 6
months until 3 yrs of age and then annually.

Management (cont.)
4. Eye disorders - An eye exam should be performed in the
newborn period or at least before 6 months of age to detect strabismus,
nystagmus, and cataracts.
5. Thyroid Function – Should be done in newborn period and
should be repeated at six and 12 months, and then annually.
6. Celiac Disease – Screening should begin at 2 yrs. Repeat
screening if signs develop.

Management ( cont)
7. Hematology– CBC with DLC at birth to evaluate for
polycythemia as well as leukemia.
8. Atlanto-axial instability – X ray for evidence of
AAI or sub-luxation at 3 to 5 years of age.
9. Alzheimer’s disease – Adult with a Down Syndrome
has earlier onset of symptoms. When diagnosis is considered, thyroid
disease and possible depression should be excluded.
10.Rehabilitation

Prevention

Counseling
 May begin when a prenatal diagnosis is made.
 Discuss the wide range of variability in manifestation and prognosis.
 Medical and educational treatments and interventions should be discussed.
 Initial referrals for early intervention, and ‘rehabilitation’.

Mortality
Avarage life span is 25yrs. To 50 yrs.
Most likely cause of death is CHD,
AAI, Hypothyroidism and Leukemia.
Improved survival is because of
increased placements of infants in
‘rehabilitation homes’ and changes in
treatment for common causes of death.
Survival is better for males

‫پيغام‬
•‫مثبت‬‫فکر‬‫کول‬‫ستاسې‬‫ژوند‬‫ته‬‫بدلون‬‫ورکوي‬:
•‫د‬‫حضرت‬‫علي‬(‫رض‬)‫قول‬،‫دې‬‫هر‬‫هغه‬‫انسان‬‫چې‬‫تل‬‫د‬‫نور‬‫خلکو‬‫منفي‬‫نقاطو‬‫پسې‬‫ګرځي‬‫او‬‫ښيګيڼ‬‫و‬‫ته‬
‫يې‬‫هيڅ‬‫پام‬‫نه‬‫کوې‬.‫مثال‬‫يې‬‫د‬‫هغه‬‫مچ‬‫دي‬‫چي‬‫ټول‬‫ښکلې‬‫بدن‬‫پرېږدي‬‫او‬‫زخمونو‬‫پسې‬‫ګرځي‬.
•‫څيړنو‬‫ښوولې‬‫څوک‬‫چې‬‫منفي‬‫فکر‬‫کوي‬‫د‬‫ژوندانه‬‫په‬‫هر‬‫چانس‬‫کې‬‫ستونزې‬‫ويني‬‫خو‬‫څوک‬‫چې‬‫د‬‫م‬‫ثبت‬
‫فکر‬‫خاوند‬‫وي‬‫آن‬‫په‬‫ستونزو‬‫کې‬‫چانسونه‬‫ګوري‬.
•‫پامير‬

Edward syndrome

Low set Ears

Micrognathia

Ambiguous Genitalia

Trisomy 18
Edwards syndrome
• Incidence 1/8000
• Sever Mental retardation
and many physical birth
defects
• >90% dead in 1st year

Trisomy 18
• severe birth defects + mental retardation

Trisomy 18 chromosome
Edwards syndrome
• Polyhydramnios,
• Small placenta
• Intrauterine growth
retardation;
• Craniofacial
dysmorphism
(strawberry-shaped head)
•Microcephaly;
• Micrognathia (small
mandible);Small face with prominent
occiput

Edwards syndrome(18+)
• Overlap of second finger on third, fourth finger on
fifth
• Fixed finger contractures

Trisomy 18
Edwards syndrome
• Weak cry
• Small sternum, small nipples and pelvis
• Hypoplasia of skeletal muscle, subcutaneous and adipose
tissue.
• CHD,VSD, PDA and horseshoe kidney, omphalocele

Small sternum, small nipples

Edwards syndrome(18+)
Rocker-bottom feet
Hypogonadism - small penis,
cryptorchidismPrepared By: Aamir khan Pameer

Trisomy 13
Patau syndrome(13+)
• severe birth
defects
• mental
retardation

Trisomy 13
Patau syndrome(13+)• IUGR – intrauterine growth retardation
• Open scalp lesion, scalp defect (cutis aplasia)
• Cleft palate (may be bilateral)
• Microcephaly
• Malformed ears
• Microphthalmos,
coloboma of the eyes

Patau syndrome (13+)
variable defect in facial development
Microcephaly
Cleft palate

Polydactyly of feet

Trisomy 13
Patau syndrome(13+)
• CNS malformations, midline brain defect, holoprosencephaly
• CHD - variety of cardiac defect (VSD, ASD,TGV

Newborn boy with diagnosed
Patau syndrome (cleft lip and
palate, polydactyly of left hand,
atrial septal defect) Boy 5 yrs old with
Patau syndrome
(congenital deafness
and blindness)

Patau syndrome (13+)
PROGNOSIS
• 50% of patients die before 1 month of age
• 70 % - die before age 6 month,
• 90 % - die before age 1 year

‫پيغام‬
‫ستونزه‬‫د‬‫پرمختګ‬‫چانس‬‫او‬‫د‬‫هللا‬‫تعالي‬‫پيرزونه‬‫ګنل‬:
‫په‬‫حقيقت‬‫کې‬‫هغه‬‫څوک‬‫چې‬‫په‬‫ژوند‬‫کي‬‫هيڅ‬‫ډول‬‫ستونزې‬‫او‬
‫مشکالت‬،‫ونلري‬‫دژوند‬‫د‬‫يو‬‫شمير‬‫مهارتونو‬‫او‬‫وړتيا‬‫تر‬‫السه‬‫کولو‬
‫څخه‬‫بي‬‫برخي‬‫او‬‫محروم‬‫پاتي‬‫کېږي‬.‫همدا‬‫ستونزي‬‫دې‬‫چي‬‫مون‬‫ږ‬
‫ته‬‫په‬‫ژوند‬‫کې‬‫د‬‫پرمختګ‬‫الر‬‫هواروي‬‫او‬‫ستونزو‬‫د‬‫هوارولو‬‫په‬
‫هڅه‬‫کي‬‫مونږ‬‫يو‬‫شمير‬‫مهارتونو‬‫څخه‬‫برخمن‬‫کيږو‬.
‫پامير‬

Turner’s Syndrome

Turner’s Syndrome
Webbed neck, unusual fingers, short stature, low
neckline are all features of the condition. Heart,
hearing and visual problems can also occur

Sex chromosome disorders involve
abnormalities in the number or structure of
the X or Y chromosome
 Affects 1 in 2500 newborn girls;
 One X chromosome is either missing or abnormal;
 In 55% of girls who have Turner-syndrom there is a 45, X karyotype;
 In 25 % of patients – the structure of one of the X chromosomes is
altered (deletion, duplication).
 in 15 % of patients – mosacism;
Turner syndrome

Prenatal diagnostics
of Turner syndrome
Blister hyhrome of neck area
and edema of fetusPrepared By: Aamir khan Pameer

XO SYNDROME (Turner Syndrome)
Short Female, Broad Chest with Wide Space of
Nipples, Congenital Lymph edema
 Dysmorphic features –
lymphedema of hands and feet at
birth,
 shield-shaped chest,
 webbing of the neck,
 appearance of short neck
 low posterior hairline,
 Cubitus valgus (increased carrying
angle)
 Short stature (height adult – 135 cm)
 Multiple pigmented nevi

Webbing Neck LymphedemaPrepared By: Aamir khan Pameer

Turner syndrome
Functional and structural abnormalities
 GONADAL dysgenesis is present in 100% of patients, is associated with
primary amenorrhea and lack of pubertal development due to absence of
ovarian hormones.
 Females are unable to become pregnant
 GONADOBLASTOMA (tumor of abdominally located gonads with Y-
containing cells) in patients who have a cells line with Y chromosome.

Congenital anomaly of uterus and testis

continue
 RENAL anomalies (40 %) include duplication of the collecting system
and horseshoe kidney.
 CHD (20 %) – AS, CA, bicuspid aortic valve. Dissecting aortic aneurysm
in young adulthood may be a serious complication.
 Thorax. Broad chest with widely spaced nipples that may be
hypoplastic; often mild pectus excavatum;

Turner syndrome
Short stature
Tendency to become

PROGNOSIS
• Depends on the type
and severity of
malformations
• Life span probably
normal in most cases

Turner Syndrome

Turner Syndrome, webbed neck

Turner Syndrome, Lymphedema

Klinefelter’s Syndrome – Male only
 Happens when:
 An XX egg is fertilised by a normal Y sperm
 OR an normal X egg is fertilised by an XY sperm
 Resulting with chromosome complement 2n = 44 + XXY
 Individuals are always male and possess male sex organs
 However they are infertile since their testes only develop to half the normal size
and fail to produce sperm
 Testes produce low levels of testosterone so facial hair, deepening of voice are only
weakly expressed. Some sufferers develop small breasts.
 Occurs in 1:1000 live male births

Klinefelter’s Syndrome

Klinefelter syndrome

XXX Syndrome

Matt Padd
Genetics

How does it occur?
 Triple x occurs when there is a third X chromosome present with two other
sex chromosomes in a female. Therefore, three X’s are present. Normal
set’s of chromosomes have only two sex chromosomes, however there is
an extra X making the cell aneuploid. Nothing definitely is known about
the causes of the chromosomes irregularity, which leads to non-disjunction
as the primary cause of the third X.

History
 The first published report of a woman with a 47,XXX karyotype was by Patricia
A. Jacobs, in Edinburgh, Scotland in 1959. She was a 35-year-old, 5 ft. 9 in.,
128 lb. woman who had premature ovarian failure at age 19; her mother
was age 41 and her father was 40 at the time of her conception.
 Occurs more often when older men and women conceive vs. younger couples.

Inheritance
 Triple X syndrome can not be inherited. It is an error in cell division during
early embryonic development. It has nothing to do with your past. Triple X
occurs in 1 out of every 1000 females at birth. Five to ten girls are born in the
U.S. every day with Triple X.

Type of mutation
 Triple X is a chromosomal mutation.

Effects
 Learning disabilities.
1. Delayed motor and linguistic development as well as a
delayed emotional maturing.
2. Poor socialization skills.
3. Increased stress
 Taller then average development.
 History of early back problems.
 Small head

Treatments
 Triple X is an irreversible disorder with no cure. However Triple X is
possible to treat. Treatments depends on the symptoms of the carrier.
Counseling such as psychological counseling is really the only treatment to
mild the effects of triple X syndrome.

XYY OR Criminal syndrome

 The Y-chromosome seems to be linked with aggression. Due to it not dividing
properly when sperms are made, a very few men are XYY- and have a high
chance of being more aggressive than XY (most men).
aggression
XYY =
(possibly)

Can a gene influence the level of
aggression?
 Genes can affect testosterone level
 Genes can affect how quickly testosterone circulate around the body
 Genes can affect the number of testosterone receptors and the sensitivity of
these receptors.

Is Aggression caused by genetics?
 Sandberg 1971 first identified what is known as 47 XYY Karyotype.
 Most individuals have 46 chromosomes, 23 from each parent, it is possible for
a male to have an extra Y sex chromosome making them XYY

XYY karyotypeNormal male karyotype

Super Male Syndrome: XYY kariotype
 Affected individuals are usually very tall and thin.
 Additional symptoms may include antisocial or behavioral problems
and learning disabilities. Intelligence is usually normal, although IQ, on
average, is 10 to 15 points lower than siblings.

A02: Are XYY More aggressive?
Yes:
 Court-Brown 1965-67, found that of a sample of 314
patients in a high security hospital, 15 were found to have
chromosomal abnormalities, including 9 who had an extra
Y chromosome.
 Court-Brown concluded that those with XYY would be best
kept hospitalised due to an increase likelihood of
aggressive behaviour.

‫پيغام‬
‫قناعت‬‫کې‬‫د‬‫انسان‬‫د‬‫خوشالۍ‬‫راز‬‫پټ‬‫دي‬.
‫هللا‬‫تعالي‬‫په‬‫قرآن‬‫کريم‬‫کي‬‫فرمايلی‬‫چي‬:
‫ژباړه‬:῞‫هيڅ‬‫مصيبت‬‫داسې‬،‫نشته‬‫چې‬‫په‬‫ځمکه‬‫کې‬‫يا‬‫تاسې‬‫پر‬‫خپل‬‫نفس‬‫نازلېږي‬‫او‬‫موږ‬‫هغه‬‫له‬‫پيدا‬
‫کولو‬‫نه‬‫مخکې‬‫په‬‫يوه‬‫کتاب‬‫کي‬‫نه‬‫وي‬‫ليکلي‬῞
‫نو‬‫د‬‫پورنتي‬‫مبارک‬‫ايات‬‫څخه‬‫دا‬‫ثابتيږي‬،‫چي‬‫هر‬‫څه‬‫د‬‫هللا‬‫تعالي‬‫لخوا‬‫دي‬.‫ښه‬‫دي‬‫او‬‫که‬‫بد‬،
‫خوشالي‬‫ده‬‫او‬‫که‬،‫غم‬‫نيکي‬‫ده‬‫او‬‫که‬،‫بدي‬‫ستونزه‬‫ده‬‫که‬،‫اسانتيا‬‫مرګ‬‫دي‬‫او‬‫که‬‫ژوند‬‫د‬‫هللا‬‫ن‬‫تالي‬
‫لخوا‬‫د‬‫انسان‬‫د‬‫خير‬‫لپاره‬‫دي‬.
‫پامير‬

PROGERIA (Hutchinson-Guilford syndrome)
Onset of symptoms generally 6 -24 months.
The condition is distinguished by
▪ growth failure
▪ alopecia
▪ small face and jaw and pinched nose
▪ dry, thin, wrinkled skin
▪ atherosclerosis and cardiovascular problems
▪ limited range of motion, arthritis
▪ Mental development is not affected.
▪ Individuals with the condition rarely live more than
16 years.
The development of symptoms is comparable to aging
at a rate six to eight times faster than normal, although
certain age-related conditions do not occur. Specifically,
victims show no neurodegeneration or cancer
predisposition.

Progeria, the classic "accelerated aging disease"
is not caused by defective DNA repair.
It is caused by mutations in a LMNA (Lamin A
protein) gene.
Lamin A is part of a protein scaffold around the
edge of the nucleus that helps organize nuclear
processes such as DNA and RNA synthesis.
Prelamin A is farnesylated, enabling it to bind to
the nuclear membrane.The cleavage site to
release Lamin A is mutated. Lamin A cannot be
produced and Prelamin A builds up on the
nuclear membrane

Noonan’s Syndrome
KimberlyT. Edwards

What is Noonan’s Syndrome?
Noonan’s Syndrome (NS) is a relatively
Common congenital genetic condition which
affects both males and females. It prevents
normal development in various parts of the
body.

Noonan’s Syndrome (con’d)
The history of NS begins with a woman
named Dr. Jacqueline Noonan. In 1962,
Noonan presented at Midwest Society for
Pediatric research a clinical study of
associated non cardiac malformations in
children with congenital heart disease and
describes nine patients who shared similar
physical disorders.

What is Noonan’s Syndrome (con’d)
Dr. John Opitz proposed that Noonan’s
Syndrome be given the name because Dr.
Jackie Noonan was the first to recognize
and describe the condition that occurred in
both sexes.

What causes Noonan’s Syndrome?NS is caused by a genetic mutation and is acquired when a
child inherits a copy of an affected gene from a parent.
There is 1 case per 1000 to 1 case per 2500 live births.
The disorder is present from birth, but age impacts the
facial phenotype. Infants with Noonan syndrome can be
difficult to recognize by facial appearance alone.The
phenotype becomes more striking in early childhood, but
with advancing age, it may again become quite subtle.
Careful examination of an affected child's parents may in
fact reveal that they are mildly affected.

Physical Features Children Could Have
There is a whole list of Noonan’s Syndrome:
Heart abnormalities Joints and Muscles
Feeding Bruising and
Growth Bleeding
Hearing
Puberty
Lymphatic System

Development, Behavior, and Intelligence
The age at which developmental milestones are
achieved may be delayed. For example, the approximate
age of sitting alone is 10 months and walking unaided 21
months.Around 10% of children with Noonan Syndrome
require significant special education. It should be noted that
Noonan Syndrome is not usually associated with severe
learning difficulties. No specific behavioral pattern has
been identified, however individuals have been reported to
show signs of clumsiness, stubbornness, and irritability.

Noonan’s Angels

Webbed Neck

William’s Syndrome
• A rare genetic condition that occurs in
approximately 1 in 20,000 births.
• Heart problems, learning difficulties, hearing
and vision defects and low IQ’s.
• A genetic mystery that creates unique
personality traits.

What is the cause ofWilliam’s syndrome (WS)?
• Micro deletion of chromosome 7
• Missing genetic material is Elastin
• Elastin – a protein important for elasticity of the skin,
blood vessels and joints

What are the symptoms ofWS?
Parents with a newly bornWS child observe:
• Feeding problems
• Vomiting and constipation
• Irritability
WS children are delayed in their development

Other Symptoms:
• Small upturned nose
• Full prominent cheeks
• A wide mouth
• A long philtrum
• Puffiness around the eyes
• Small irregular teeth
Distinctive body structure:
• Long neck and sloping shoulders
• Joint stiffness
• Low height
Eric
Miriam
Patricia
Trey

What are the treatment options?
• Health and educational professionals should be involved
in the care of aWS child.
• Regular checkups for potential medical problems
• The expertise of developmental psychologists, physical
and occupational therapists
• Language and speech therapists

What are the chances of having anotherWS child?
•The chances are minimal
WS has an autosomal dominant inheritance pattern,
which means there is a 50% chance that a person with
WS passes the disorder on to each of his or her children.
Normal male Female withWS
Normal childChild withWS

‫پيغام‬
‫د‬‫هغو‬‫موضوعاتو‬‫په‬‫اړه‬‫بي‬‫تفاوته‬‫وسيدل‬‫چي‬‫پايلې‬‫يي‬‫زمونږ‬‫په‬‫فکر‬‫پوري‬‫اړه‬‫نلري‬.
‫هر‬‫انسان‬‫که‬‫فکر‬‫وکړي‬‫او‬‫يو‬‫ورقه‬‫باندي‬‫د‬‫خپل‬‫ذهن‬‫هغه‬‫تشويشونه‬‫او‬‫ستونزي‬‫وليکي‬.‫چي‬‫دې‬،‫ځوروي‬‫نو‬‫وبه‬
‫ګوري‬‫چي‬‫په‬‫سلو‬‫کي‬‫پنځه‬‫نوي‬‫ستونزي‬‫او‬‫مشکالت‬‫پردي‬‫دي‬‫چې‬‫د‬‫نيوکو‬‫او‬‫ناخواښيو‬‫له‬‫آمله‬‫يي‬‫دهغه‬‫ذهن‬‫ته‬
‫الر‬‫پيدا‬‫کړي‬.
‫د‬‫نن‬‫انسان‬‫د‬‫نورو‬‫خلکو‬‫داسې‬‫ستونزو‬‫او‬‫نيوکو‬‫په‬‫وجه‬‫ځوريږي‬.‫پالني‬‫داسې‬‫کوي؟‬‫پالني‬‫څرنګي‬‫کال‬‫ي‬‫اچوي؟‬
‫پالني‬‫د‬‫پالني‬‫سره‬‫ملګرتيا‬‫ده؟‬‫او‬‫داډول‬‫يو‬‫شمير‬‫موضوعات‬‫دي‬‫چي‬‫زمونږ‬‫په‬‫ژوند‬‫کي‬‫چندان‬‫رول‬‫هم‬‫نلر‬‫ي‬،
‫خو‬‫زمونږ‬‫ژوندسختوي‬.
‫پامير‬

Moebius Syndrome is a rare disorder characterized by
lifetime facial paralysis. People with Moebius
Syndrome can’t smile or frown, and they often can’t
blink or move their eyes from side to side. In some
instances, the syndrome is also associated with
physical problems in other parts of the body.

The most apparent symptoms are related to
facial expressions and function. In newborn
infants, the first sign is an impaired ability to
suck. Excessive drooling and crossed eyes may
be present. In addition, there can be deformities
of the tongue and jaw, and even of some limbs,
including club foot and missing or webbed
fingers. Most children have low muscle tone,
particularly of the upper body.

•Lack of facial expression; inability to smile
•Feeding, swallowing and choking problem
•Keeping head back to swallow
•Eye sensitivity due to inability to squint
•Motor delays due to upper body weakness
•Absence to lateral eye movement
•Absence of blinking
•Strabismus
•Drooling
•High palate
•Short or deformed tongue
•Limited movement of tongue
•Submucous cleft palate
•Teeth problems
•Hearing problems
•Speech difficulties
•Minor mid-line anomalies

Infants sometimes require
special bottles or feeding tubes
to maintain sufficient nutrition.
Strabismus (crossed eyes) is
usually correctable with surgery.
Children with Moebius Syndrome
can also benefit from physical
and speech therapy to improve
their gross motor skills and
coordination, and to gain better
control over speaking and eating.
Limb and jaw deformities may
often be improved through
surgery. In addition, plastic
reconstructive surgery of the face
can offer benefits in individual
cases. In some cases, nerve and
muscle transfers to the corners of
the mouth have been performed
to provide an ability to smile.

One of the most frustrating aspects of coping with Moebius Syndrome is the
surprising lack of awareness among physicians and nurses. It occurs so
infrequently that many children go undiagnosed for months and sometimes years
after birth. Parents and those affected spend a lot of time and emotional energy
explaining and re-explaining this rare condition. The rarity of Moebius Syndrome
becomes, in effect, an additional complication of the disorder. Because so few
members of the professional and lay public have even heard of Moebius
Syndrome, medical and social support, as well as reimbursement from insurance
companies, are severely limited. This lack of support services puts additional
burdens on individuals and their families in their attempts to cope with Moebius
Syndrome. Lack of awareness also plays a role in limiting research into potential
treatments and cures for Moebius Syndrome.

clínica
Parálisis facial congénita,
no progresiva,
generalmente bilateral
Parálisis
del VI par
Estrabismo convergente
Apariencia facial asimétrica y
poco expresiva.Puede afectar otros
pares como III,
VIII,IX,X,XI
Produciendo:
Estrabismo
divergente
Ptosis palpebral

clínica
Alteraciones de la
sensibilidad
Alteración en la
succión
Disfagia y Disfonía
Micrognatia
Anomalía de los oídos
Epicanto
prominente
Sindáctilia, Braquidactilia
Alteraciones de los
Anomalías

Cri Du Chat Syndrome

Genetics
Most cases occur during the
development of the egg or sperm
About 1 in every 50,000 newborns are
born with this condition

Symptoms
Cry that is high-pitched and sounds like
a cat
Downward slant to the eyes
Low birth weight and slow growth
Low-set or abnormally shaped ears
Mental retardation (intellectual
disability)
Partial webbing or fusing of fingers or
toes
Single line in the palm of
the hand
Skin tags just in front of
the ear
Slow or incomplete
development of motor
skills
Small head
(microcephaly)
Small jaw (micrognathia)
Wide-set eyes

Treatment
Doctors will suggest
ways to manage
specific symptoms

Cri Du Chat is usually random and
not by heredity through the parents
The deleted chromosome 5 is
paternal in about 80% of cases

Love

 A disorder of the connective tissue
 It can affect many body systems
OTHERNAMES:
MLS
 Marfan’s Syndrome

 Affects men, women and children
 All races and ethnic backgrounds
 At least 1 in every 5,000 people in the
United States have the disorder

 Skeleton
 Eyes
 Cardiovascular System
 Nervous System
 Skin
 Lungs

SKELETON:
 Tall and slender bodies
 Long fingers and toes
 Arm spans longer than their body height
 Unusually flexible joints
 Narrow face
 High arched roof of mouth
 Crowded teeth
 Scoliosis
 Sunken or protruding chests
EYES:
 Dislocation of one or both eye lenses
 Retinal detachment
 Nearsightedness
 Glaucoma
Cataracts

CARDIOVASCULARSYSTEM:
 Aortic dilatation
 The wall of the aorta may be weakened and stretched
 Aortic dissection
 When the aorta tears
 Sudden death
 Heart murmurs
 Doctors hear through stethoscopes
 Large murmurs can result in shortness of breath, fatigue, and
palpitations
NERVOUSSYSTEM:
 Dural ectasia
 Weak and stretched duras begin to weigh on the vertebrae in the
lower spine and wear away the bone surrounding the spinal cord
 Can lead to mild discomfort or to radiated pain in the abdomen,
pain, numbness, or weakness in the legs.

SKIN:
 Stretch marks
 Even without weight change
 Can occur at any age and involve no health risks
 Abdominal or inguinal hernia
 A bulge containing parts of the intestines
LUNGS:
 No noticeable problems
 If tiny air sacs become stretched or swollen, the risk of lung collapse may
increase
 Sleep-related breathing disorders
 Snoring
 Sleep apnea
When breathing briefly stops

Marfan Syndrome was named after a
French man, Bernard Marfan. He became
Assistant Professor of Pediatrics in the Paris
faculty in 1892. Using a 5 year old girl, Gabrielle,
who seemed to have long limbs that were
disproportioned, he shared his findings of the
symptom with others. Other symptoms like
arachnodactyly (long digits), cardiovascular
abnormalities, and ocular lens dislocation were
found in later studies. Marfan gained a world-
wide reputation and was recognized as a pioneer
of pediatric medicine in France. By the time
1934 had arrived, Bernard received an honorary
fellowship of the Royal Society of Medicine in
Britain. He later died in 1942, but his findings
are still being investigated today. B E R N A R D M A R F A N

Huntington Disease
 Average age of onset 40 years (range 2- >80 years);
Progression over 10-25 years.
 Movement disorder: choreic movements, twitching, balance
problems, tracking problems, slowing of voluntary
movement. In juvenile HD and in late stages of HD, rigidity
and dystonia.
 Cognitive dysfunction: problem solving, cognitive flexibility,
short term memory, visuospatial functioning; progression to
a global subcortical dementia
 Personality changes: depression, apathy, irritability,
impulsive behavior, affective disorders, rarely psychoses,
increased alcohol use in early stages, increased suicide rate

Incidence of
Huntington Disease per 100,000 People
African Blacks 0.06
South African Whites 2.4
Japan 0.38
Finland 0.5
Hong Kong 2.5
American Blacks 3-7
Western Europeans 7
American Whites 7-10
North Sweeden 144
Tasmania, Australia 174
Moray Firth, Scotland* 560 (5 people in <1000)
Zulia, Venezuela 700

Woodrow Wilson Guthrie

Pathology of Huntington Disease
 Brain atrophy involving caudate nucleus and putamen with
loss of striatal neurons and secondary atrophy of globus
pallidus
 Dilation of lateral and third ventricles
 Additional atrophy throughout cortex, especially frontal
and parietal lobes
 Loss of small neurons precedes larger neurons with neurons
utilizing GABA and enkephalin or substance P preferentially
 Fibrillary gliosis

Huntington
disease

Huntington Disease
 IT15/Huntingtin gene on 4p16.3 cloned in 1993
 Disease mutation - CAG expansion in exon 1
 Repeat number Outcome
 10-28: normal, no transmission of HD
 29-35: normal, paternal meiotic instability
 36-39: reduced penetrance (25%: 36 repeats, 90%: 39 repeats)
 40-100+: will develop HD if person lives long enough
 Increased meiotic instability in males - Paternal transmission of
expanded allele associated with over 3/4 of juvenile disease
 Encodes 348 kD huntingtin protein which is a target for caspase
3, a protease associated with neuronal apoptosis

‫پيغام‬
‫تل‬‫د‬‫نورو‬‫سره‬‫مرسته‬‫کوي‬.
‫هغه‬‫خوشالي‬‫چي‬‫د‬‫نورو‬‫سره‬‫په‬‫مرسته‬‫او‬‫ښيګڼه‬‫کولو‬‫کي‬‫تر‬‫السه‬‫کولي‬،‫شو‬‫هيڅکله‬‫يي‬‫د‬‫ځان‬‫لپاره‬‫پ‬‫ه‬‫يو‬‫کار‬
‫کولو‬‫کي‬‫نشوموندلي‬
‫پامير‬

Cystic Fibrosis
A Presentation Constructed by
Stacy Salerno

Clinical Features
 Cystic fibrosis is a heterogeneous recessive
genetic disorder with features that reflect
mutations in the cystic fibrosis
transmembrane conductance regulator
(CFTR) gene.
 Classic cystic fibrosis is characterized by
chronic bacterial infection of the airways
and sinuses, fat maldigestion due to
pancreatic exocrine insufficiency, infertility
in males due to obstructive azoospermia,
and elevated concentrations of chloride in
sweat.
 Patients with nonclassic cystic fibrosis have
at least one copy of a mutant gene that
confers partial function of the CFTR
protein, and such patients usually have no
overt signs of maldigestion because some
pancreatic exocrine function is preserved.Prepared By: Aamir khan Pameer

3D Image of Protein
 When a CFTR protein with the delta F508
mutation reaches the ER, the quality-
control mechanism of this cellular
component recognizes that the protein is
folded incorrectly and marks the
defective protein for degradation. As a
result, delta F508 never reaches the cell
membrane.
 People who are homozygous for delta
F508 mutation tend to have the most
severe symptoms of cystic fibrosis due to
critical loss of chloride ion transport.
 This upsets the sodium and chloride ion
balance needed to maintain the normal,
thin mucus layer that is easily removed by
cilia lining the lungs and other organs.
The sodium and chloride ion imbalance
creates a thick, sticky mucus layer that
cannot be removed by cilia and traps
bacteria, resulting in chronic infections.Prepared By: Aamir khan Pameer

Mucous in the airways cannot be easily cleared from the lungs.
Presentation of Disease

Presentation of Disease
Colon
Pancreas
Sticky mucus secretion
Ducts are filled with sticky mucus. Scaring of tissue.

Treatment
Gastrointestinal Treatment
 Modified diet
Due to pancreatic disorders, children with CF require a modified diet, including
vitamin supplements (vitamins A, D, E, and K) and pancreatic enzymes. Maintaining
adequate nutrition is essential. The diet calls for a high-caloric content (twice
what is considered normal for the child's age), which is typically low in fat and high
in protein. Patients or their caregivers should consult with their health care
providers to determine the most appropriate diet.
•The only way to cure CF would be to use gene therapy to replace the
defective gene or to give the patient the normal form of the protein
before symptoms cause permanent damage.
•The major goal in treating CF is to clear the abnormal and excess
secretions and control infections in the lungs, and to prevent obstruction
in the intestines.
•For patients with advanced stages of the disease, a lung transplant
operation may be necessary.
•Although treating the symptoms does not cure the disease, it can
greatly improve the quality of life for most patients and has, over the
years, increased the average life span of CF patients to 30 years.

Gene Therapy
 Gene therapy is the use of
normal DNA to "correct" for
the damaged genes that
cause disease.
 In the case of CF, gene
therapy involves inhaling a
spray that delivers normal
DNA to the lungs.
 The goal is to replace the
defective CF gene in the
lungs to cure CF or slow the
progression of the disease.

AlbinismGeriatric Optometry & Low Vision
M a c l e s t e r

Description
 Albinism (from Latin albus, "white“also called
achromia, achromasia, or achromatosis) is a
congenital disorder characterized by the complete or
partial absence of pigment in the skin, hair and eyes
due to absence or defect of tyrosinase, a copper-
containing enzyme involved in the production of
melanin. Albinism results from inheritance of
recessive gene alleles and is known to affect all
vertebrates, including humans.

Characteristics
 Little to no melanin (important pigment) in eyes, skin, and
hair
 Vision problems are a result of the low amounts of melanin
in albinos
 Eyes are usually blue or light brown, but can sometimes
appear red
 Skin and hair is very pale in color
 More likely to sunburn
 Sensitivity to bright light

 Photophobia
sunglasses or tinted glasses
 Squint
glasses or an eye patch
 Nystagmus
surgery may be an option

All
About
Albinism

What is Albinism?
 Albinism is a group of genetic conditions that causes a lack of pigment.
Genetic means that your mum and dad pass it on to you when they make you.
Pigment is the stuff that makes your skin different colours like light (like me),
or dark (like someone from Africa). People with albinism don’t have much or
any pigment in their eyes, hair, or body (this is called oculo cutanious
albinism). Some people just have albinism in their eyes (this is called Ocular
albinism).
 About 1 in 17 thousand people in Australia have Albinism.

My mum has albinism

What do people with Albinism Look
Like?
Most people with Albinism have light blonde or yellowish hair, light pinkish or
creamy skin and blue or violet eyes.
If they only have albinism in their eyes then their skin and hair can be of normal
colour
People from all over the world can have albinism, even people from Africa,
China, India and Japan! Their skin will usually be very light.

African child with Albinism

Chinese girl with albinism

Indian child with Albinism & his sister

Even animals can have albinism!

Eye Sight Conditions
Nystagmus
This is when a person with albinism’s
eyes wobble slightly. My mum’s
moves side to side. This, and other
eye conditions in albinism affects
her eyesight. She can’t see as well
as me or you.
Photophobia
People with Albinism are sensitive
to glare from the sun and sudden
lights when in a dark room. People
with albinism also burn very very
easily in the sun. My mum can even
burn in the shade with the
reflection off concrete, sand or
water.

Help with Seeing
Mini Telescope and magnifying glass
Mum uses these to read bus numbers
and menus
Video Magnifyer & talking book
machine
Visually impaired people like my mum
use these to read books or listen to
them.

What is Albinism?
An overview of the condition and how it is inherited

Congenital genetic abnormality of melanin
synthesis in which the amount of melanin
made by the melanocyte is reduced or
absent.
Always includes specific abnormalities of
the eye
Oculocutaneous albinism, OCA1- 4
Ocular albinism, OA1
Albinism plus other features, HPS1-N
Albinism:

Low Vision in Albinism
A discussion of “how we see” and the nature of the visual
impairment associated with albinism

Psychosocial Issues
A brief look at the ways in which albinism not only affects the way a
person sees but how he or she is seen by others

Myths and Misconceptions
A look at some of the commonly held myths surrounding albinism

PHENYLKETONURIA
(PKU)

PHENYLALANINE
HYDROXYLASE
PHENYLALANINE
Dietry
sources,
particularly
plant
proteins
BODY
PROTEINS
BREAKDOWN
(b)
(a)
The normal metabolism of phenylalanine
(pathways a and b)
TYROSINE
© 2008 Paul Billiet ODWS

HYDROXYPHENYLACETIC
ACID
PHENYLACETIC
ACID*
(c)
(c)
The abnormal metabolism in phenylketonuric subjects
(pathway c)
*Agents, thought to be responsible for mental retardation
PHENYLALANINE*
Dietry
sources,
particularly
plant
proteins
BODY
PROTEINS
(b)
(a)
PHENYLALANINE
HYDROXYLASE

Test
• Ferric chloride + urine of new born baby Green colour in the presence of
ketone bodies

Treatment
• A strictly controlled phenylalanine free diet
• up to the age of about 14 years old
• phenylalanine is itself an essential amino acid small doses must be supplied
• After this age the growth and development of the brain is not affected by
high levels of phenylalanine in the body

Frequency
• 1 in 10 000 in Caucasians of NW Europe

Causes
1. A single mutant recessive allele of the Phenylalanine Hydroxylase (PAH)
gene
Locus : Long arm of Chromosome 12
2. Dietary excess of plant proteins which results in the exhaustion of a
protein cofactor (pterin) needed by the enzyme

Molecular Biology & Genomics (SEC. 061) Presentation by Imran * Jimmy

Introduction
• Duchenne Muscular Dystrophy(DMD) Facts
o Incidence/prevalence
• Genotype of DMD
o Molecular Makeup
o Dystrophin Function
• Phenotype of DMD
• Allelic Variants
• Diagnosis
o Signs and tests
o Treatment
• Ongoing research Prepared By: Aamir khan Pameer

Duchenne Muscular
Dystrophy Facts
• Duchenne muscular dystrophy (DMD) is a
severe recessive X-linked form of
muscular dystrophy
• DMD is characterized by rapid progression
of muscle degeneration, eventually
leading to loss of ambulation and death.
• It's caused by mutations in the DMD gene,
the largest gene in the human body.
• DMD affects mostly males at a rate of 1 in
3,500 births.
• The mean age at DMD diagnosis was 4.6

DMD Facts (continued)
• Any mother who is a carrier for muscular
dystrophy will have a 50:50 chance giving
birth to a son with muscular dystrophy and a
50:50 chance of giving birth to a daughter
who is a carrier.

Incidence/Prevalence
• The first historical account of muscular
dystrophy appeared in 1830, when Sir
Charles Bell wrote an essay about an
illness that caused progressive
weakness in boys.
• DMD is named after the French
neurologist Guillaume Benjamin Amand
Duchenne (1806–1875), who first
described the disease in 1861
• Until the 1980s, little was known about
the cause of any kind of muscular
dystrophy.
• In 1986, MDA-supported researchers

Muscular Dystrophies
Patarawan Woratanarat, MD, PhD
Department of Orthopaedics
Faculty of Medicine Ramathibodi Hospital

A 7-year-old boy presents with progressive
weakness of both legs for 4 years.

Definition
• A group of
noninflammation
inherited distroders
• progressive degeneration
and weakness of skeletal
muscles
• without cause in
peripheral / central
nervous system

Duchenne Muscular dystrophy
Guillaume Benjamin Amand Duchenne
(French neurologist, 1860s)

Duchenne Muscular dystrophy

DMD: pathology

DMD: Epidemiology
• Most common
• male, Turner syndrome
• 1:3500 live male birth
• 1/3 new mutation
• 65% family history

DMD: Clinical manifestation
• Onset : age 3-6 years
• Progressive weakness
• Pseudohypertrophy of
calf muscles
• Spinal deformity
• Cardiopulmonary
involvement
• Mild - moderate MR

Pseudohypertrhophy of calf muscle, Tip toe gait
forward tilt of pelvis, compensatory lordosis

Disappearance of lordosis while sitting

DMD: Diagnosis
Gower’s sign

DMD: Natural history
• Progress slowly and
continuously
• muscle weakness
• lower --> upper
extremities
• unable to ambulate: 10
year (7-12)
• death from pulmonary/
cardiac failure: 2-3rd
decade

DMD:Treatment
• Prednisolone
• Dystrophin replacement
• Maintain function
• PMR
• orthosis
• cardiopulmonary Rx
• Counselling

DMD:Treatment
• Surgery
• Foot & ankle:Achillis,Tibialis posterior release
• Knee:Yount, hamstring release
• Hip: Ober, modified Soutter procedure

An 8-yr-old boy
Unable to stand
Percut. Tenotomy
Achillis tendon
Ambulate with
orthosis
DMD:Treatment

Colour
blindness
Presented by: Meera Qaiser
Presented to: Miss IrumAnjum
Subject: Essentials of genetics
Major: Biotechnology
Semester: 4th

What is colour blindness?
• Color blindness means that you have trouble seeing
red, green, or blue or a mix of these colors. It’s rare that
a person sees no color at all.
• Color blindness is also called a color vision problem.
• A color vision problem can change your life.

Causes of colour blindness:
1. Usually genetic condition.
• Red/Green or Blue colour blindness is passed down from
parents.
• The gene responsible is on X chromosome.
• mutations capable of causing color blindness originate from
at least 19 different chromosomes and many different genes
• More males are affected the females are basically carrier
• There is 50% chance of mother passing this condition to her
son

o Inherited condition maybe due to following…..
o In our eye there are two types of light sensitive cell
1. Rods
2. cones
o Both found in retina which is a layer at the back of eye it
processes images.
o The rods are responsible for vision in night as work in low
light condition ( cannot distinguish different wavelength of
light)
o The cones are responsible for color discrimination

continued
o there are three types of cones
o ( differ on the basis of photoreceptor protein they make)
1. L-cones sense long wavelenght ( red light)
2. M-cones sense medium wavelength ( green light)
3. S-cones sense shorter wavelenght ( blue light )

• When you see an object light
enters your eye and stimulates
the cone cells
• Your brain interpret the signals
from the cone cell and enable you
to see the colour of object
• They work together enabling us
to see whole spectrum of colours.
• Faulty cones thus are responsible
for color blindnessPrepared By: Aamir khan Pameer

2. Acquired color blindness:
• Aging.
• Eye problems, such as glaucoma, macular
degeneration, cataracts, or diabetic retinopathy
• Injury to the eye.
• Side effects of some medicines.
• If you have inherited colour blindness your condition
will stay the same throughout your life – it won’t get
any better or worse.

Types of colour blindness
1. Trichromacy ( three colour vision )
- Normal colour vision
2. Anomalous trichomacy ( unusuall three colour vision )
- See all three primary colour
- One colour is seen weakly
- Protanomaly ( l-cone defect ) red weak
- Deuteranamoly ( M-cone defect ) green weak
- Tritanomaly ( S-cone defect ) Blue weak

3. Dichromacy ( two colour vision)
- See only two of three primary colours
- One cone is totally disfunctional or absent
- Protanopia ( l-cone absent )
- Detutranopia ( M-cone absent )
- Tritanopia ( S-cone absent )
4. Rod monochromacy (no cones at all )
- Sees no colour only shades of greyPrepared By: Aamir khan Pameer

Inheritence pattern
• Red-green colour blindness is usually inherited from parents
• It is passed from mother to son on 23rd chromosome which is sex chromosome
• Chromosomes are the structure which contains genes, they contain instructions for
the development of cell tissues organ and if you are colour blind it means
instructions for cone development are wrong
• It may be missing or less sensitive
• Or pathway from cone to brain is not developed properly

• For male to be color blind his X chromosome should have
the faulty gene
• The female might have both X chromosomes normal or
one X chromosome might have faulty gene but gene on
other chromosome compensates it so the female is
carrier and passes on faulty gene to her son so he is
colorblind
• The daughter might be carrier or color blind if her father
is colorblind and mother is the carrier

hemophilia
• Dr shabeel pn

• A group of hereditary genetic disorders that impair the body's ability to
control blood clotting or coagulation .
• The effects of this sex-linked, X chromosome disorder are manifested
almost entirely in males
• Females are almost exclusively carriers of the disorder, and may have
inherited it from either their mother or father.

Causes
• Haemophilia A is an X-linked genetic disorder involving a
lack of functional clotting FactorVIII and represents 90%
of hemophilia cases.[3]
• Haemophilia B is an X-linked genetic disorder involving a
lack of functional clotting Factor IX It is more severe but
less common than Hemophilia A.
• Haemophilia C is an autosomal recessive genetic disorder
involving a lack of functional clotting Factor XI.

HEMOPHILIA a
• Mild : 6 – 50 % of normal factor viii level
• Moderate : 1 -5 %
• Severe : < 1% ( joint synovitis , hemophilic arthropathies , IM
bleeding, hemarrhagic cyst)

HEMOPHILIA b
• Genetic bckgrnd , factor level, clinical
symptoms are same as HEM A
• Distinction – 1940
• specific factor concentrate

Hemophilia A
Inherited blood disease where
your blood doesn’t clot normally.

Cause• Lack of clotting factors
• Hemophilia A (most common type)
• Lack of clotting factorVIII
• Passed on with X chromosome
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1

Symptoms
• Spontaneous bleeding
• Large or deep bruises
• Joint pain and swelling - internal
bleeding
• Random bleeding or bruising
• Blood in urine
• Nosebleeds
• Tightness in joints
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Symptoms
• Emergency Signs
• Sudden pain, swelling, and warmth
of joints and muscles
• Long and painful headaches
• Constant vomiting
• Fatigue
• Neck Pain
• DoubleVision
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Characteristics
• Continuous bleeding after:
• Injury
• Surgery
• Tooth extraction
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Characteristics
• More serious complications-
• Bleeding into:
• Joints
• Muscles
• Brain
• Other internal organsQuickTime™ and a
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Characteristics
Lifelong Disease

Who Is Affected?• Women may be carriers
• Passed down to children
• Males have 50% chance of getting disease
• Females have 50% chance of carrying disease
• Hemophilia is mostly in men
• Men only have one X-chromosome
• All age groups
• Mostly children
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How It NormallyWorks
Blood vessels are cut or
damaged
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Clotting factor
recruits collagen
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8
7
Blood reacts to clotting
factors
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Platelets form plug
at the injury site
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Bleeding stops!!
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11
10
9
How Disease Affects Homeostasis
No clotting factor to
recruit collagen
No clotting factor for
blood to react to
Platelets don’t form a
plug
Bleeding Does Not
Stop!
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Diagnosis• Family history of hemophilia
•Fetus testing
•Blood testing from a child or adult
•DiagnosticTesting
•CarrierTesting
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Treatment
• Replacement of the missing clotting factor
• Desmopressin
• Injected into vein
• Can be given as nasal medication
• Helps body release factorVIII
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Prevention
Can’t be prevented
• Genetic disorder
• Genetic Counseling
• Figures out the chance of your child getting
hemophilia
• Regular exercise
• Prevents bleeding
15

Genetic abnormalities by Aamir khan pameer

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