SlideShare a Scribd company logo
Embryonic Disorders
By- Isha Thapa Magar
Introduction
• Embryonic Disorders is defined as the
deformity or defect which arises or exists at or
before birth during the process of development
which may be result of genetic or environmental
factors.
Condt..
• Embryonic Disorders/Genetic disorders are
of following types:
1.Chromosomal abnormalities
2.Mendelian disorders
3.Multifactorial defects.
Contd…
• Chromosomal abnormalities is alterations in
normal number of chromosomes or structural
problems within chromosomes themselves.
• Both kinds of chromosome abnormalities may
result from an ovum or sperm cell with incorrect
number of chromosomes, or with a structurally
faulty chromosome uniting with a normal egg or
sperm during conception.
• Consequences in affected individual are often
severe, or even lethal.
Types
1. Numerical abnormalities.
i. Trisomy 21 (Down
syndrome).
ii. Trisomy 18 (Edward
syndrome).
iii.Trisomy 13 (Patau
syndrome).
iv.Klinefelter syndrome.
v. Turner syndrome.
2. Structural abnormalities.
1.Numerical Chromosomal
abnormalities
• Aneuploidy is the result of numeric
chromosome errors.
• If the zygote has an extra chromosome,
condition is called trisomy.
• If the zygote is missing a chromosome, the
condition is called monosomy.
• If the zygote survives and develops into a
fetus, the chromosomal abnormality is
transmitted to all of its cells. The child that is
born will have symptoms related to the
presence of an extra chromosome or absence
of a chromosome.
i.Trisomy 21 (Down syndrome)
2.Trisomy 18 (Edwards syndrome)
3.Trisomy 13 (Patau syndrome)
4.Turner syndrome (45,X)
5.Klinefelter male, 47,XXY.
Structural Chromosomal abnormalities
• Occur when there is a change in structure or
components of a chromosome.
• Such as when part of a chromosome is
missing, a part of a chromosome is extra, or a
part has switched places with another part.
Embryonic abnormalities
Embryonic abnormalities
Mendelian Inheritance Disorder
- The disorders whose inheritance is in
accordance to the Mendels’ laws of
inheritance.
- They occur as a result of mutation.
- They are single gene disorders.
Mendel's laws of inheritance
Law of dominance and
uniformity
Some alleles are dominant
while others are recessive; an
organism with at least one
dominant allele will display
effect of dominant allele.
Law of segregation
During gamete formation, the alleles
for each gene segregate from each
other so that each gamete carries
only one allele for each gene.
Law of independent
assortment
Genes of different traits can
segregate independently during
formation of gametes.
Law of Dominance and unformity
Law of segregation
Law of independent Assortment
Types
1.Autosomal Dominant
2. Autosomal Recessive
3.X-linked Dominant
4. X-linked Recessive
5.Mitochondrial
1.Autosomal Dominant:
 When affected gene is located on an autosome
and disorder gets expressed in both
homozygous and heterozygous condition, this
disorder is called autosomal dominant.
 Affected person has an affected parent and
occurs in every generation.
 Every affected child has at least one affected
parent.
 Male and female offspring are equally
affected.
 There are affected people in several
generations.
 There is a 50% risk of involvement of each
sibling of an affected person if the parent is
affected.
 Eg: Cardiomyopathy, skeletal dysplasia etc.
Embryonic abnormalities
2. Autosomal Recessive
• When the affected gene is located on an
autosome but the disorder gets expressed only in
homozygous condition, the disorder is called
autosomal recessive.
 Both parents of an affected person are either
carriers or affected themselves.
 Eg: Sickle-celled anaemia, phenylketonuria,
cystic fibrosis etc.
Embryonic abnormalities
3. X-linked dominant:
 When affected gene is located on X sex
chromosome and disorder gets expressed in
both homozygous and heterozygous condition,
disorder is called X-linked dominant.
 Females are more frequently affected but both
males as well as females can be affected in one
generation.
 Eg: vitamin D-resistant rickets.
Embryonic abnormalities
4. X-linked recessive:
 When affected gene is located on X sex
chromosome and disorder gets expressed only in
homozygous condition, disorder is called X-
linked recessive.
 Males are more frequently affected and female are
just carriers.
 The mother is usually a carrier, and she transmits
disease to 50% of her son.
 Eg: Haemophilia, colour blindness, muscular
dystrophy etc.
Embryonic abnormalities
5. Mitochondrial Disorder
 When affected gene is coming from
mitochondrial DNA it is called mitochondrial
disorder.
 It is transferred from one generation to other
only by females but can affect both males and
females.
 Appear in every generation.
Multifactorial Defects
Multifactorial inheritance means that many
factors are involved in causing a birth defect.
The factors are usually both genetic and
environmental, where a combination of genes
from both parents, in addition to unknown
environmental factors, produce the trait or
condition.
Often one gender (either males or females) is
affected more frequently than the other in
multifactorial traits.
 Multifactorial traits do recur in families, because they
are partly caused by genes.
 Chance of occurrence for a multifactorial trait, depends
upon how closely family member with trait is related
to individual.
 E.g. risk is higher if individual sibilings has the trait or
disease, than if first cousin has trait or disease.
 Family members share a certain percentage of genes in
common, depending upon their relationship.
 Eg. of multifactorial traits and diseases include: height,
neural tube defects, and hip dysplasia.
Embryonic abnormalities

More Related Content

What's hot

Klinefelter Syndrome
Klinefelter SyndromeKlinefelter Syndrome
Klinefelter Syndrome
Krishna Moorthy
 
Turner syndrome
Turner syndromeTurner syndrome
Turner syndrome
Marwa Elhady
 
Chromosomal anomalies
Chromosomal anomaliesChromosomal anomalies
Chromosomal anomalies
Quan Fu Gan
 
Genetic counselling & Prenatal Diagnosis
Genetic counselling & Prenatal Diagnosis Genetic counselling & Prenatal Diagnosis
Genetic counselling & Prenatal Diagnosis
DrDilip86
 
Genetic counselling
Genetic counselling Genetic counselling
Genetic counselling
pushpa jaisal
 
Turner syndrome
Turner syndromeTurner syndrome
Turner syndrome
Shahzenan al-azzawi
 
Prenatal diagnosis
Prenatal diagnosisPrenatal diagnosis
Prenatal diagnosis
apollobgslibrary
 
Spermatogenesis presented by Uttaran Modhukalya
Spermatogenesis presented by Uttaran ModhukalyaSpermatogenesis presented by Uttaran Modhukalya
Spermatogenesis presented by Uttaran Modhukalya
UTTARAN MODHUKALYA
 
CHROMOSOMAL DISORDERS
CHROMOSOMAL DISORDERSCHROMOSOMAL DISORDERS
CHROMOSOMAL DISORDERS
Muhammad Zaid
 
Turner syndrome
Turner syndromeTurner syndrome
Turner syndrome
MostafaBakhshi
 
Di george syndrome ppt
Di george syndrome pptDi george syndrome ppt
Di george syndrome ppt
cclarke1230
 
Sexual Differentiation During Development and Gonadal Dysgenesis
Sexual Differentiation During Development and Gonadal DysgenesisSexual Differentiation During Development and Gonadal Dysgenesis
Sexual Differentiation During Development and Gonadal Dysgenesis
Girish Kumar K
 
Turner syndrome
Turner syndromeTurner syndrome
Turner syndrome
Siti Nurul Afiqah Johari
 
Turner syndrome presentation last
Turner syndrome presentation lastTurner syndrome presentation last
Turner syndrome presentation last
Salem Salem
 
Explanation slides Multifactorial conditions
Explanation slides Multifactorial conditionsExplanation slides Multifactorial conditions
Explanation slides Multifactorial conditions
meducationdotnet
 
Congenital anomalies (birth defect)
Congenital anomalies (birth defect)Congenital anomalies (birth defect)
Congenital anomalies (birth defect)
QURATULAIN MUGHAL
 
PRENATAL DIAGONOSIS OF GENETIC DISORDERS
PRENATAL DIAGONOSIS OF GENETIC DISORDERSPRENATAL DIAGONOSIS OF GENETIC DISORDERS
PRENATAL DIAGONOSIS OF GENETIC DISORDERS
Dikshat Pruthi
 
6.2 Human Genetic Disorders 2019
6.2 Human Genetic Disorders 20196.2 Human Genetic Disorders 2019
6.2 Human Genetic Disorders 2019
alexsong2018
 
Klinefelter syndrome
Klinefelter syndromeKlinefelter syndrome
Klinefelter syndrome
Hafiz M Waseem
 
Birth defects
Birth defectsBirth defects

What's hot (20)

Klinefelter Syndrome
Klinefelter SyndromeKlinefelter Syndrome
Klinefelter Syndrome
 
Turner syndrome
Turner syndromeTurner syndrome
Turner syndrome
 
Chromosomal anomalies
Chromosomal anomaliesChromosomal anomalies
Chromosomal anomalies
 
Genetic counselling & Prenatal Diagnosis
Genetic counselling & Prenatal Diagnosis Genetic counselling & Prenatal Diagnosis
Genetic counselling & Prenatal Diagnosis
 
Genetic counselling
Genetic counselling Genetic counselling
Genetic counselling
 
Turner syndrome
Turner syndromeTurner syndrome
Turner syndrome
 
Prenatal diagnosis
Prenatal diagnosisPrenatal diagnosis
Prenatal diagnosis
 
Spermatogenesis presented by Uttaran Modhukalya
Spermatogenesis presented by Uttaran ModhukalyaSpermatogenesis presented by Uttaran Modhukalya
Spermatogenesis presented by Uttaran Modhukalya
 
CHROMOSOMAL DISORDERS
CHROMOSOMAL DISORDERSCHROMOSOMAL DISORDERS
CHROMOSOMAL DISORDERS
 
Turner syndrome
Turner syndromeTurner syndrome
Turner syndrome
 
Di george syndrome ppt
Di george syndrome pptDi george syndrome ppt
Di george syndrome ppt
 
Sexual Differentiation During Development and Gonadal Dysgenesis
Sexual Differentiation During Development and Gonadal DysgenesisSexual Differentiation During Development and Gonadal Dysgenesis
Sexual Differentiation During Development and Gonadal Dysgenesis
 
Turner syndrome
Turner syndromeTurner syndrome
Turner syndrome
 
Turner syndrome presentation last
Turner syndrome presentation lastTurner syndrome presentation last
Turner syndrome presentation last
 
Explanation slides Multifactorial conditions
Explanation slides Multifactorial conditionsExplanation slides Multifactorial conditions
Explanation slides Multifactorial conditions
 
Congenital anomalies (birth defect)
Congenital anomalies (birth defect)Congenital anomalies (birth defect)
Congenital anomalies (birth defect)
 
PRENATAL DIAGONOSIS OF GENETIC DISORDERS
PRENATAL DIAGONOSIS OF GENETIC DISORDERSPRENATAL DIAGONOSIS OF GENETIC DISORDERS
PRENATAL DIAGONOSIS OF GENETIC DISORDERS
 
6.2 Human Genetic Disorders 2019
6.2 Human Genetic Disorders 20196.2 Human Genetic Disorders 2019
6.2 Human Genetic Disorders 2019
 
Klinefelter syndrome
Klinefelter syndromeKlinefelter syndrome
Klinefelter syndrome
 
Birth defects
Birth defectsBirth defects
Birth defects
 

Similar to Embryonic abnormalities

GENETICS PPT.pptx
GENETICS PPT.pptxGENETICS PPT.pptx
GENETICS PPT.pptx
Deepti Kukreti
 
2. cardenas introduction
2. cardenas   introduction2. cardenas   introduction
2. cardenas introduction
John Velo
 
Genetic inheritance and chromosomal disorders
Genetic inheritance and chromosomal disordersGenetic inheritance and chromosomal disorders
Genetic inheritance and chromosomal disorders
Rakesh Verma
 
Genetic_disorders.pptx
Genetic_disorders.pptxGenetic_disorders.pptx
Genetic_disorders.pptx
Arifulkarim4
 
genetic condition of inhiretance.pptx
genetic condition of inhiretance.pptxgenetic condition of inhiretance.pptx
genetic condition of inhiretance.pptx
HamzeAAliguul
 
Genetics
GeneticsGenetics
Genetic pattern of common pediatric disorder
Genetic pattern of common pediatric disorderGenetic pattern of common pediatric disorder
Genetic pattern of common pediatric disorder
HARSHITA
 
Human Genetics BMD 404.pptx
Human Genetics BMD 404.pptxHuman Genetics BMD 404.pptx
Human Genetics BMD 404.pptx
JoycelynDamoah
 
Modes of inheritance
Modes of inheritance Modes of inheritance
Modes of inheritance
Ramachandran Thiruvengadam
 
Berger Ls 7e Ch 3
Berger Ls 7e  Ch 3Berger Ls 7e  Ch 3
Berger Ls 7e Ch 3
mara bentley
 
Heredity, Prenatal.pdf
Heredity, Prenatal.pdfHeredity, Prenatal.pdf
Heredity, Prenatal.pdf
ssuserb7192a
 
Genetics dentistry inheritance patterns or modes of inheritance 1
Genetics dentistry  inheritance patterns or modes of inheritance 1Genetics dentistry  inheritance patterns or modes of inheritance 1
Genetics dentistry inheritance patterns or modes of inheritance 1
Lama K Banna
 
Genetics dentistry inheritance patterns or modes of inheritance
Genetics dentistry  inheritance patterns or modes of inheritanceGenetics dentistry  inheritance patterns or modes of inheritance
Genetics dentistry inheritance patterns or modes of inheritance
Lama K Banna
 
Berger ls 7e ch 3
Berger ls 7e  ch 3Berger ls 7e  ch 3
Berger ls 7e ch 3
Jenna Ave-Lallemant
 
Genetic and chromosomal aberrations in children
Genetic and chromosomal aberrations in childrenGenetic and chromosomal aberrations in children
Genetic and chromosomal aberrations in children
Narsinhbhai Patel Dental College and Hospital
 
Etiology and pathogenesis of heredity and congenital diseases presentation
Etiology and pathogenesis of heredity and congenital diseases presentationEtiology and pathogenesis of heredity and congenital diseases presentation
Etiology and pathogenesis of heredity and congenital diseases presentation
Muhammad Faisal Mukhtar
 
Patterns of inheritence chapter 1
Patterns of inheritence chapter 1Patterns of inheritence chapter 1
Patterns of inheritence chapter 1
Girish Singh
 
Pedigree analysis
Pedigree analysisPedigree analysis
Pedigree analysis
Nawfal Aldujaily
 
Chapter 3: HEREDITY AND VARIATIONS
Chapter 3: HEREDITY AND VARIATIONSChapter 3: HEREDITY AND VARIATIONS
Chapter 3: HEREDITY AND VARIATIONS
Hamizah Muhammad
 
3- human 3 genetics without genetic counseling.ppt
3- human 3 genetics without genetic counseling.ppt3- human 3 genetics without genetic counseling.ppt
3- human 3 genetics without genetic counseling.ppt
DrJoharAljohar
 

Similar to Embryonic abnormalities (20)

GENETICS PPT.pptx
GENETICS PPT.pptxGENETICS PPT.pptx
GENETICS PPT.pptx
 
2. cardenas introduction
2. cardenas   introduction2. cardenas   introduction
2. cardenas introduction
 
Genetic inheritance and chromosomal disorders
Genetic inheritance and chromosomal disordersGenetic inheritance and chromosomal disorders
Genetic inheritance and chromosomal disorders
 
Genetic_disorders.pptx
Genetic_disorders.pptxGenetic_disorders.pptx
Genetic_disorders.pptx
 
genetic condition of inhiretance.pptx
genetic condition of inhiretance.pptxgenetic condition of inhiretance.pptx
genetic condition of inhiretance.pptx
 
Genetics
GeneticsGenetics
Genetics
 
Genetic pattern of common pediatric disorder
Genetic pattern of common pediatric disorderGenetic pattern of common pediatric disorder
Genetic pattern of common pediatric disorder
 
Human Genetics BMD 404.pptx
Human Genetics BMD 404.pptxHuman Genetics BMD 404.pptx
Human Genetics BMD 404.pptx
 
Modes of inheritance
Modes of inheritance Modes of inheritance
Modes of inheritance
 
Berger Ls 7e Ch 3
Berger Ls 7e  Ch 3Berger Ls 7e  Ch 3
Berger Ls 7e Ch 3
 
Heredity, Prenatal.pdf
Heredity, Prenatal.pdfHeredity, Prenatal.pdf
Heredity, Prenatal.pdf
 
Genetics dentistry inheritance patterns or modes of inheritance 1
Genetics dentistry  inheritance patterns or modes of inheritance 1Genetics dentistry  inheritance patterns or modes of inheritance 1
Genetics dentistry inheritance patterns or modes of inheritance 1
 
Genetics dentistry inheritance patterns or modes of inheritance
Genetics dentistry  inheritance patterns or modes of inheritanceGenetics dentistry  inheritance patterns or modes of inheritance
Genetics dentistry inheritance patterns or modes of inheritance
 
Berger ls 7e ch 3
Berger ls 7e  ch 3Berger ls 7e  ch 3
Berger ls 7e ch 3
 
Genetic and chromosomal aberrations in children
Genetic and chromosomal aberrations in childrenGenetic and chromosomal aberrations in children
Genetic and chromosomal aberrations in children
 
Etiology and pathogenesis of heredity and congenital diseases presentation
Etiology and pathogenesis of heredity and congenital diseases presentationEtiology and pathogenesis of heredity and congenital diseases presentation
Etiology and pathogenesis of heredity and congenital diseases presentation
 
Patterns of inheritence chapter 1
Patterns of inheritence chapter 1Patterns of inheritence chapter 1
Patterns of inheritence chapter 1
 
Pedigree analysis
Pedigree analysisPedigree analysis
Pedigree analysis
 
Chapter 3: HEREDITY AND VARIATIONS
Chapter 3: HEREDITY AND VARIATIONSChapter 3: HEREDITY AND VARIATIONS
Chapter 3: HEREDITY AND VARIATIONS
 
3- human 3 genetics without genetic counseling.ppt
3- human 3 genetics without genetic counseling.ppt3- human 3 genetics without genetic counseling.ppt
3- human 3 genetics without genetic counseling.ppt
 

More from ishamagar

Female sub-fertility
Female sub-fertility Female sub-fertility
Female sub-fertility
ishamagar
 
Sub-fertility
Sub-fertilitySub-fertility
Sub-fertility
ishamagar
 
Male reproductive organs
Male reproductive organsMale reproductive organs
Male reproductive organs
ishamagar
 
Assisted Reproductive Technique
Assisted Reproductive TechniqueAssisted Reproductive Technique
Assisted Reproductive Technique
ishamagar
 
Puperial sepsis
Puperial sepsisPuperial sepsis
Puperial sepsis
ishamagar
 
Extended role of nursing
Extended role of nursing Extended role of nursing
Extended role of nursing
ishamagar
 
History of midwifery
History of midwiferyHistory of midwifery
History of midwifery
ishamagar
 
Fetal development
Fetal developmentFetal development
Fetal development
ishamagar
 
Learning Disability
Learning DisabilityLearning Disability
Learning Disability
ishamagar
 
Infant
InfantInfant
Infant
ishamagar
 
Mood disorder & Manic episode
Mood disorder  & Manic episodeMood disorder  & Manic episode
Mood disorder & Manic episode
ishamagar
 
Bipolar mood disorder
Bipolar mood disorder Bipolar mood disorder
Bipolar mood disorder
ishamagar
 
Depression
Depression Depression
Depression
ishamagar
 
Adolescence
Adolescence Adolescence
Adolescence
ishamagar
 
Rheumatic arthritis
Rheumatic arthritisRheumatic arthritis
Rheumatic arthritis
ishamagar
 
Head injury
Head injuryHead injury
Head injury
ishamagar
 
Stroke
StrokeStroke
Stroke
ishamagar
 
Spinal cord injury
Spinal cord injurySpinal cord injury
Spinal cord injury
ishamagar
 
Schizophrenia
Schizophrenia Schizophrenia
Schizophrenia
ishamagar
 
Accreditation
AccreditationAccreditation
Accreditation
ishamagar
 

More from ishamagar (20)

Female sub-fertility
Female sub-fertility Female sub-fertility
Female sub-fertility
 
Sub-fertility
Sub-fertilitySub-fertility
Sub-fertility
 
Male reproductive organs
Male reproductive organsMale reproductive organs
Male reproductive organs
 
Assisted Reproductive Technique
Assisted Reproductive TechniqueAssisted Reproductive Technique
Assisted Reproductive Technique
 
Puperial sepsis
Puperial sepsisPuperial sepsis
Puperial sepsis
 
Extended role of nursing
Extended role of nursing Extended role of nursing
Extended role of nursing
 
History of midwifery
History of midwiferyHistory of midwifery
History of midwifery
 
Fetal development
Fetal developmentFetal development
Fetal development
 
Learning Disability
Learning DisabilityLearning Disability
Learning Disability
 
Infant
InfantInfant
Infant
 
Mood disorder & Manic episode
Mood disorder  & Manic episodeMood disorder  & Manic episode
Mood disorder & Manic episode
 
Bipolar mood disorder
Bipolar mood disorder Bipolar mood disorder
Bipolar mood disorder
 
Depression
Depression Depression
Depression
 
Adolescence
Adolescence Adolescence
Adolescence
 
Rheumatic arthritis
Rheumatic arthritisRheumatic arthritis
Rheumatic arthritis
 
Head injury
Head injuryHead injury
Head injury
 
Stroke
StrokeStroke
Stroke
 
Spinal cord injury
Spinal cord injurySpinal cord injury
Spinal cord injury
 
Schizophrenia
Schizophrenia Schizophrenia
Schizophrenia
 
Accreditation
AccreditationAccreditation
Accreditation
 

Recently uploaded

Dr Charles James de Vis, M.R.C.S., L.S.A. England, Surgeon to the Charters To...
Dr Charles James de Vis, M.R.C.S., L.S.A. England, Surgeon to the Charters To...Dr Charles James de Vis, M.R.C.S., L.S.A. England, Surgeon to the Charters To...
Dr Charles James de Vis, M.R.C.S., L.S.A. England, Surgeon to the Charters To...
semualkaira
 
Why Does Seminal Vesiculitis Causes Jelly-like Sperm.pptx
Why Does Seminal Vesiculitis Causes Jelly-like Sperm.pptxWhy Does Seminal Vesiculitis Causes Jelly-like Sperm.pptx
Why Does Seminal Vesiculitis Causes Jelly-like Sperm.pptx
AmandaChou9
 
Journal club presentation JC 28.5.24 edit.pptx
Journal club presentation JC 28.5.24 edit.pptxJournal club presentation JC 28.5.24 edit.pptx
Journal club presentation JC 28.5.24 edit.pptx
AdhyaDubey1
 
selllllllllllllllllllllllllllllllllllllllllllllll.pptx
selllllllllllllllllllllllllllllllllllllllllllllll.pptxselllllllllllllllllllllllllllllllllllllllllllllll.pptx
selllllllllllllllllllllllllllllllllllllllllllllll.pptx
Joebest8
 
Top 10 Habits for Longevity [Biohacker Summit 2024]
Top 10 Habits for Longevity [Biohacker Summit 2024]Top 10 Habits for Longevity [Biohacker Summit 2024]
Top 10 Habits for Longevity [Biohacker Summit 2024]
Olli Sovijärvi
 
Geriatric radiography.pptx Geriatric radiography.pptxGeriatric radiography.pptx
Geriatric radiography.pptx Geriatric radiography.pptxGeriatric radiography.pptxGeriatric radiography.pptx Geriatric radiography.pptxGeriatric radiography.pptx
Geriatric radiography.pptx Geriatric radiography.pptxGeriatric radiography.pptx
Dinesh Danny
 
Drug Repurposing for Parasitic Diseases.pptx
Drug Repurposing for Parasitic Diseases.pptxDrug Repurposing for Parasitic Diseases.pptx
Drug Repurposing for Parasitic Diseases.pptx
drebrahiim
 
APPROACH TO DIAGNOSIS OF LIVER DISEASES.ppt
APPROACH TO DIAGNOSIS OF LIVER DISEASES.pptAPPROACH TO DIAGNOSIS OF LIVER DISEASES.ppt
APPROACH TO DIAGNOSIS OF LIVER DISEASES.ppt
KarthikeyanA87
 
KUSTHA PPT .pdf KUSTHA definition, classification, and modern probable correl...
KUSTHA PPT .pdf KUSTHA definition, classification, and modern probable correl...KUSTHA PPT .pdf KUSTHA definition, classification, and modern probable correl...
KUSTHA PPT .pdf KUSTHA definition, classification, and modern probable correl...
DrMalathiVenketesham
 
AGARICUS MUSCARIUS.pptx Keynotes by H.C. Allen
AGARICUS MUSCARIUS.pptx  Keynotes by H.C. AllenAGARICUS MUSCARIUS.pptx  Keynotes by H.C. Allen
AGARICUS MUSCARIUS.pptx Keynotes by H.C. Allen
DR.P.S SUDHAKAR
 
THE MANAGEMENT OF PROSTATE CANCER . pptx
THE MANAGEMENT OF PROSTATE CANCER . pptxTHE MANAGEMENT OF PROSTATE CANCER . pptx
THE MANAGEMENT OF PROSTATE CANCER . pptx
Bright Chipili
 
Abnormal CSF Diagnosis and Lumbar puncture
Abnormal CSF Diagnosis and Lumbar punctureAbnormal CSF Diagnosis and Lumbar puncture
Abnormal CSF Diagnosis and Lumbar puncture
Preet Mehta
 
Amygdala Medi-Trivia Quiz (Prelims) | FAQ 2024
Amygdala Medi-Trivia Quiz (Prelims) | FAQ 2024Amygdala Medi-Trivia Quiz (Prelims) | FAQ 2024
Amygdala Medi-Trivia Quiz (Prelims) | FAQ 2024
Anindya Das Adhikary
 
Clinical examination of- CRANIAL.- nerves
Clinical examination of- CRANIAL.- nervesClinical examination of- CRANIAL.- nerves
Clinical examination of- CRANIAL.- nerves
DrpoonamHealthclinic
 
lessonplan JTR.pptx For medical education
lessonplan JTR.pptx For medical educationlessonplan JTR.pptx For medical education
lessonplan JTR.pptx For medical education
DrJALAGAMTHIRUPATHIR
 
JULY 2024 Oncology Cartoons by Dr Kanhu Charan Patro
JULY 2024 Oncology Cartoons by Dr Kanhu Charan PatroJULY 2024 Oncology Cartoons by Dr Kanhu Charan Patro
JULY 2024 Oncology Cartoons by Dr Kanhu Charan Patro
Kanhu Charan
 
Comfort, Rest, Sleep and Pain.pptx
Comfort, Rest, Sleep  and Pain.pptxComfort, Rest, Sleep  and Pain.pptx
Comfort, Rest, Sleep and Pain.pptx
Nandish Sannaiah
 
FUNCTIONAL DYSPEPSIA by Dr. Maryam Iqbal
FUNCTIONAL DYSPEPSIA by Dr. Maryam IqbalFUNCTIONAL DYSPEPSIA by Dr. Maryam Iqbal
FUNCTIONAL DYSPEPSIA by Dr. Maryam Iqbal
Zain Umar
 
Abortion pills for sale in Qatar(+919707208804)Buy Cytotec tablet in Doha
Abortion pills for sale in Qatar(+919707208804)Buy Cytotec tablet in DohaAbortion pills for sale in Qatar(+919707208804)Buy Cytotec tablet in Doha
Abortion pills for sale in Qatar(+919707208804)Buy Cytotec tablet in Doha
maishakhanam230
 
SA Gastro Cure(pancreatic cancer treatment in india).pptx
SA Gastro Cure(pancreatic cancer treatment in india).pptxSA Gastro Cure(pancreatic cancer treatment in india).pptx
SA Gastro Cure(pancreatic cancer treatment in india).pptx
VinothKumar70905
 

Recently uploaded (20)

Dr Charles James de Vis, M.R.C.S., L.S.A. England, Surgeon to the Charters To...
Dr Charles James de Vis, M.R.C.S., L.S.A. England, Surgeon to the Charters To...Dr Charles James de Vis, M.R.C.S., L.S.A. England, Surgeon to the Charters To...
Dr Charles James de Vis, M.R.C.S., L.S.A. England, Surgeon to the Charters To...
 
Why Does Seminal Vesiculitis Causes Jelly-like Sperm.pptx
Why Does Seminal Vesiculitis Causes Jelly-like Sperm.pptxWhy Does Seminal Vesiculitis Causes Jelly-like Sperm.pptx
Why Does Seminal Vesiculitis Causes Jelly-like Sperm.pptx
 
Journal club presentation JC 28.5.24 edit.pptx
Journal club presentation JC 28.5.24 edit.pptxJournal club presentation JC 28.5.24 edit.pptx
Journal club presentation JC 28.5.24 edit.pptx
 
selllllllllllllllllllllllllllllllllllllllllllllll.pptx
selllllllllllllllllllllllllllllllllllllllllllllll.pptxselllllllllllllllllllllllllllllllllllllllllllllll.pptx
selllllllllllllllllllllllllllllllllllllllllllllll.pptx
 
Top 10 Habits for Longevity [Biohacker Summit 2024]
Top 10 Habits for Longevity [Biohacker Summit 2024]Top 10 Habits for Longevity [Biohacker Summit 2024]
Top 10 Habits for Longevity [Biohacker Summit 2024]
 
Geriatric radiography.pptx Geriatric radiography.pptxGeriatric radiography.pptx
Geriatric radiography.pptx Geriatric radiography.pptxGeriatric radiography.pptxGeriatric radiography.pptx Geriatric radiography.pptxGeriatric radiography.pptx
Geriatric radiography.pptx Geriatric radiography.pptxGeriatric radiography.pptx
 
Drug Repurposing for Parasitic Diseases.pptx
Drug Repurposing for Parasitic Diseases.pptxDrug Repurposing for Parasitic Diseases.pptx
Drug Repurposing for Parasitic Diseases.pptx
 
APPROACH TO DIAGNOSIS OF LIVER DISEASES.ppt
APPROACH TO DIAGNOSIS OF LIVER DISEASES.pptAPPROACH TO DIAGNOSIS OF LIVER DISEASES.ppt
APPROACH TO DIAGNOSIS OF LIVER DISEASES.ppt
 
KUSTHA PPT .pdf KUSTHA definition, classification, and modern probable correl...
KUSTHA PPT .pdf KUSTHA definition, classification, and modern probable correl...KUSTHA PPT .pdf KUSTHA definition, classification, and modern probable correl...
KUSTHA PPT .pdf KUSTHA definition, classification, and modern probable correl...
 
AGARICUS MUSCARIUS.pptx Keynotes by H.C. Allen
AGARICUS MUSCARIUS.pptx  Keynotes by H.C. AllenAGARICUS MUSCARIUS.pptx  Keynotes by H.C. Allen
AGARICUS MUSCARIUS.pptx Keynotes by H.C. Allen
 
THE MANAGEMENT OF PROSTATE CANCER . pptx
THE MANAGEMENT OF PROSTATE CANCER . pptxTHE MANAGEMENT OF PROSTATE CANCER . pptx
THE MANAGEMENT OF PROSTATE CANCER . pptx
 
Abnormal CSF Diagnosis and Lumbar puncture
Abnormal CSF Diagnosis and Lumbar punctureAbnormal CSF Diagnosis and Lumbar puncture
Abnormal CSF Diagnosis and Lumbar puncture
 
Amygdala Medi-Trivia Quiz (Prelims) | FAQ 2024
Amygdala Medi-Trivia Quiz (Prelims) | FAQ 2024Amygdala Medi-Trivia Quiz (Prelims) | FAQ 2024
Amygdala Medi-Trivia Quiz (Prelims) | FAQ 2024
 
Clinical examination of- CRANIAL.- nerves
Clinical examination of- CRANIAL.- nervesClinical examination of- CRANIAL.- nerves
Clinical examination of- CRANIAL.- nerves
 
lessonplan JTR.pptx For medical education
lessonplan JTR.pptx For medical educationlessonplan JTR.pptx For medical education
lessonplan JTR.pptx For medical education
 
JULY 2024 Oncology Cartoons by Dr Kanhu Charan Patro
JULY 2024 Oncology Cartoons by Dr Kanhu Charan PatroJULY 2024 Oncology Cartoons by Dr Kanhu Charan Patro
JULY 2024 Oncology Cartoons by Dr Kanhu Charan Patro
 
Comfort, Rest, Sleep and Pain.pptx
Comfort, Rest, Sleep  and Pain.pptxComfort, Rest, Sleep  and Pain.pptx
Comfort, Rest, Sleep and Pain.pptx
 
FUNCTIONAL DYSPEPSIA by Dr. Maryam Iqbal
FUNCTIONAL DYSPEPSIA by Dr. Maryam IqbalFUNCTIONAL DYSPEPSIA by Dr. Maryam Iqbal
FUNCTIONAL DYSPEPSIA by Dr. Maryam Iqbal
 
Abortion pills for sale in Qatar(+919707208804)Buy Cytotec tablet in Doha
Abortion pills for sale in Qatar(+919707208804)Buy Cytotec tablet in DohaAbortion pills for sale in Qatar(+919707208804)Buy Cytotec tablet in Doha
Abortion pills for sale in Qatar(+919707208804)Buy Cytotec tablet in Doha
 
SA Gastro Cure(pancreatic cancer treatment in india).pptx
SA Gastro Cure(pancreatic cancer treatment in india).pptxSA Gastro Cure(pancreatic cancer treatment in india).pptx
SA Gastro Cure(pancreatic cancer treatment in india).pptx
 

Embryonic abnormalities

  • 2. Introduction • Embryonic Disorders is defined as the deformity or defect which arises or exists at or before birth during the process of development which may be result of genetic or environmental factors.
  • 3. Condt.. • Embryonic Disorders/Genetic disorders are of following types: 1.Chromosomal abnormalities 2.Mendelian disorders 3.Multifactorial defects.
  • 4. Contd… • Chromosomal abnormalities is alterations in normal number of chromosomes or structural problems within chromosomes themselves. • Both kinds of chromosome abnormalities may result from an ovum or sperm cell with incorrect number of chromosomes, or with a structurally faulty chromosome uniting with a normal egg or sperm during conception. • Consequences in affected individual are often severe, or even lethal.
  • 5. Types 1. Numerical abnormalities. i. Trisomy 21 (Down syndrome). ii. Trisomy 18 (Edward syndrome). iii.Trisomy 13 (Patau syndrome). iv.Klinefelter syndrome. v. Turner syndrome. 2. Structural abnormalities.
  • 6. 1.Numerical Chromosomal abnormalities • Aneuploidy is the result of numeric chromosome errors. • If the zygote has an extra chromosome, condition is called trisomy. • If the zygote is missing a chromosome, the condition is called monosomy.
  • 7. • If the zygote survives and develops into a fetus, the chromosomal abnormality is transmitted to all of its cells. The child that is born will have symptoms related to the presence of an extra chromosome or absence of a chromosome.
  • 8. i.Trisomy 21 (Down syndrome)
  • 10. 3.Trisomy 13 (Patau syndrome)
  • 13. Structural Chromosomal abnormalities • Occur when there is a change in structure or components of a chromosome. • Such as when part of a chromosome is missing, a part of a chromosome is extra, or a part has switched places with another part.
  • 16. Mendelian Inheritance Disorder - The disorders whose inheritance is in accordance to the Mendels’ laws of inheritance. - They occur as a result of mutation. - They are single gene disorders.
  • 17. Mendel's laws of inheritance Law of dominance and uniformity Some alleles are dominant while others are recessive; an organism with at least one dominant allele will display effect of dominant allele. Law of segregation During gamete formation, the alleles for each gene segregate from each other so that each gamete carries only one allele for each gene. Law of independent assortment Genes of different traits can segregate independently during formation of gametes.
  • 18. Law of Dominance and unformity
  • 20. Law of independent Assortment
  • 21. Types 1.Autosomal Dominant 2. Autosomal Recessive 3.X-linked Dominant 4. X-linked Recessive 5.Mitochondrial
  • 22. 1.Autosomal Dominant:  When affected gene is located on an autosome and disorder gets expressed in both homozygous and heterozygous condition, this disorder is called autosomal dominant.  Affected person has an affected parent and occurs in every generation.
  • 23.  Every affected child has at least one affected parent.  Male and female offspring are equally affected.  There are affected people in several generations.  There is a 50% risk of involvement of each sibling of an affected person if the parent is affected.  Eg: Cardiomyopathy, skeletal dysplasia etc.
  • 25. 2. Autosomal Recessive • When the affected gene is located on an autosome but the disorder gets expressed only in homozygous condition, the disorder is called autosomal recessive.  Both parents of an affected person are either carriers or affected themselves.  Eg: Sickle-celled anaemia, phenylketonuria, cystic fibrosis etc.
  • 27. 3. X-linked dominant:  When affected gene is located on X sex chromosome and disorder gets expressed in both homozygous and heterozygous condition, disorder is called X-linked dominant.  Females are more frequently affected but both males as well as females can be affected in one generation.  Eg: vitamin D-resistant rickets.
  • 29. 4. X-linked recessive:  When affected gene is located on X sex chromosome and disorder gets expressed only in homozygous condition, disorder is called X- linked recessive.  Males are more frequently affected and female are just carriers.  The mother is usually a carrier, and she transmits disease to 50% of her son.  Eg: Haemophilia, colour blindness, muscular dystrophy etc.
  • 31. 5. Mitochondrial Disorder  When affected gene is coming from mitochondrial DNA it is called mitochondrial disorder.  It is transferred from one generation to other only by females but can affect both males and females.  Appear in every generation.
  • 32. Multifactorial Defects Multifactorial inheritance means that many factors are involved in causing a birth defect. The factors are usually both genetic and environmental, where a combination of genes from both parents, in addition to unknown environmental factors, produce the trait or condition. Often one gender (either males or females) is affected more frequently than the other in multifactorial traits.
  • 33.  Multifactorial traits do recur in families, because they are partly caused by genes.  Chance of occurrence for a multifactorial trait, depends upon how closely family member with trait is related to individual.  E.g. risk is higher if individual sibilings has the trait or disease, than if first cousin has trait or disease.  Family members share a certain percentage of genes in common, depending upon their relationship.  Eg. of multifactorial traits and diseases include: height, neural tube defects, and hip dysplasia.