This document provides information about human genetics and genetic disorders, with a focus on Down syndrome. It defines genetic disorders and outlines different modes of genetic inheritance such as autosomal dominant, autosomal recessive, X-linked, and multifactorial inheritance. The document then describes Down syndrome in detail, including its causes, clinical features, investigations, screening and diagnosis, outcomes, and genetic counseling considerations.
Counseling is a process of communicating between two or more persons who meet to solve a problem, resource a curse or take decision on various matters. It is not a one way process where in the counseling tells the client what to do nor it is a forum for presentation of the counselor’s values.
Genetic counseling process follows these basic characteristic of a counseling process. It is undertaken with families confronted with genetic and inherited disorders.
GENETIC TESTING: Introduction, definition, methods: molecular, chromosomal and biochemical, indications, types: preimplantation, forensic, newborn, carrier, prenatal, ethical, social and legal issues, interpretation of tests, risks and limitations, role of nurse
Counseling is a process of communicating between two or more persons who meet to solve a problem, resource a curse or take decision on various matters. It is not a one way process where in the counseling tells the client what to do nor it is a forum for presentation of the counselor’s values.
Genetic counseling process follows these basic characteristic of a counseling process. It is undertaken with families confronted with genetic and inherited disorders.
GENETIC TESTING: Introduction, definition, methods: molecular, chromosomal and biochemical, indications, types: preimplantation, forensic, newborn, carrier, prenatal, ethical, social and legal issues, interpretation of tests, risks and limitations, role of nurse
A rather large presentation about Eugenics, focusing largely on the Nazis but touching on the origins, birth, United States, general principles and even more.
Human reproduction is remarkably inefficient; Only 420 are born alive out of 1000 fertilizations, nearly 70% of human conceptions do not survive to live birth. The stillbirth in india is highest in the world 7% to 14% in different states Odisha 8% Karnataka 14% (of course reported only) Recurrent pregnancy loss is a psychologically stressful diagnosis for couples, in approximately 50% of cases, no cause will be found. The number of evidence-based practices available for guidance is limited. This confluence of factors presents a challenge for clinicians. However, in studies of interventions aimed at reducing rates of miscarriage in women with otherwise unexplained RPL, control groups experience a live birth rate of up to 87% with no intervention. Thus, one of the most significant things we can do when caring for these complex patients is to offer them emotional support and accurate information. As more work is done in this emerging area of reproductive science, we will be able to shed more light on this complex problem.
Neuroblastoma diagnosis, treatment, complications, and further management. The main contents of this review have been accessed from MedScape. Please do not reprint or copy this material without permission from the copyright owner.
The prostate is an exocrine gland of the male mammalian reproductive system
It is a walnut-sized gland that forms part of the male reproductive system and is located in front of the rectum and just below the urinary bladder
Function is to store and secrete a clear, slightly alkaline fluid that constitutes 10-30% of the volume of the seminal fluid that along with the spermatozoa, constitutes semen
A healthy human prostate measures (4cm-vertical, by 3cm-horizontal, 2cm ant-post ).
It surrounds the urethra just below the urinary bladder. It has anterior, median, posterior and two lateral lobes
It’s work is regulated by androgens which are responsible for male sex characteristics
Generalised disease of the prostate due to hormonal derangement which leads to non malignant enlargement of the gland (increase in the number of epithelial cells and stromal tissue)to cause compression of the urethra leading to symptoms (LUTS
Tom Selleck Health: A Comprehensive Look at the Iconic Actor’s Wellness Journeygreendigital
Tom Selleck, an enduring figure in Hollywood. has captivated audiences for decades with his rugged charm, iconic moustache. and memorable roles in television and film. From his breakout role as Thomas Magnum in Magnum P.I. to his current portrayal of Frank Reagan in Blue Bloods. Selleck's career has spanned over 50 years. But beyond his professional achievements. fans have often been curious about Tom Selleck Health. especially as he has aged in the public eye.
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Introduction
Many have been interested in Tom Selleck health. not only because of his enduring presence on screen but also because of the challenges. and lifestyle choices he has faced and made over the years. This article delves into the various aspects of Tom Selleck health. exploring his fitness regimen, diet, mental health. and the challenges he has encountered as he ages. We'll look at how he maintains his well-being. the health issues he has faced, and his approach to ageing .
Early Life and Career
Childhood and Athletic Beginnings
Tom Selleck was born on January 29, 1945, in Detroit, Michigan, and grew up in Sherman Oaks, California. From an early age, he was involved in sports, particularly basketball. which played a significant role in his physical development. His athletic pursuits continued into college. where he attended the University of Southern California (USC) on a basketball scholarship. This early involvement in sports laid a strong foundation for his physical health and disciplined lifestyle.
Transition to Acting
Selleck's transition from an athlete to an actor came with its physical demands. His first significant role in "Magnum P.I." required him to perform various stunts and maintain a fit appearance. This role, which he played from 1980 to 1988. necessitated a rigorous fitness routine to meet the show's demands. setting the stage for his long-term commitment to health and wellness.
Fitness Regimen
Workout Routine
Tom Selleck health and fitness regimen has evolved. adapting to his changing roles and age. During his "Magnum, P.I." days. Selleck's workouts were intense and focused on building and maintaining muscle mass. His routine included weightlifting, cardiovascular exercises. and specific training for the stunts he performed on the show.
Selleck adjusted his fitness routine as he aged to suit his body's needs. Today, his workouts focus on maintaining flexibility, strength, and cardiovascular health. He incorporates low-impact exercises such as swimming, walking, and light weightlifting. This balanced approach helps him stay fit without putting undue strain on his joints and muscles.
Importance of Flexibility and Mobility
In recent years, Selleck has emphasized the importance of flexibility and mobility in his fitness regimen. Understanding the natural decline in muscle mass and joint flexibility with age. he includes stretching and yoga in his routine. These practices help prevent injuries, improve posture, and maintain mobilit
Ozempic: Preoperative Management of Patients on GLP-1 Receptor Agonists Saeid Safari
Preoperative Management of Patients on GLP-1 Receptor Agonists like Ozempic and Semiglutide
ASA GUIDELINE
NYSORA Guideline
2 Case Reports of Gastric Ultrasound
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Knee anatomy and clinical tests 2024.pdfvimalpl1234
This includes all relevant anatomy and clinical tests compiled from standard textbooks, Campbell,netter etc..It is comprehensive and best suited for orthopaedicians and orthopaedic residents.
ARTIFICIAL INTELLIGENCE IN HEALTHCARE.pdfAnujkumaranit
Artificial intelligence (AI) refers to the simulation of human intelligence processes by machines, especially computer systems. It encompasses tasks such as learning, reasoning, problem-solving, perception, and language understanding. AI technologies are revolutionizing various fields, from healthcare to finance, by enabling machines to perform tasks that typically require human intelligence.
Recomendações da OMS sobre cuidados maternos e neonatais para uma experiência pós-natal positiva.
Em consonância com os ODS – Objetivos do Desenvolvimento Sustentável e a Estratégia Global para a Saúde das Mulheres, Crianças e Adolescentes, e aplicando uma abordagem baseada nos direitos humanos, os esforços de cuidados pós-natais devem expandir-se para além da cobertura e da simples sobrevivência, de modo a incluir cuidados de qualidade.
Estas diretrizes visam melhorar a qualidade dos cuidados pós-natais essenciais e de rotina prestados às mulheres e aos recém-nascidos, com o objetivo final de melhorar a saúde e o bem-estar materno e neonatal.
Uma “experiência pós-natal positiva” é um resultado importante para todas as mulheres que dão à luz e para os seus recém-nascidos, estabelecendo as bases para a melhoria da saúde e do bem-estar a curto e longo prazo. Uma experiência pós-natal positiva é definida como aquela em que as mulheres, pessoas que gestam, os recém-nascidos, os casais, os pais, os cuidadores e as famílias recebem informação consistente, garantia e apoio de profissionais de saúde motivados; e onde um sistema de saúde flexível e com recursos reconheça as necessidades das mulheres e dos bebês e respeite o seu contexto cultural.
Estas diretrizes consolidadas apresentam algumas recomendações novas e já bem fundamentadas sobre cuidados pós-natais de rotina para mulheres e neonatos que recebem cuidados no pós-parto em unidades de saúde ou na comunidade, independentemente dos recursos disponíveis.
É fornecido um conjunto abrangente de recomendações para cuidados durante o período puerperal, com ênfase nos cuidados essenciais que todas as mulheres e recém-nascidos devem receber, e com a devida atenção à qualidade dos cuidados; isto é, a entrega e a experiência do cuidado recebido. Estas diretrizes atualizam e ampliam as recomendações da OMS de 2014 sobre cuidados pós-natais da mãe e do recém-nascido e complementam as atuais diretrizes da OMS sobre a gestão de complicações pós-natais.
O estabelecimento da amamentação e o manejo das principais intercorrências é contemplada.
Recomendamos muito.
Vamos discutir essas recomendações no nosso curso de pós-graduação em Aleitamento no Instituto Ciclos.
Esta publicação só está disponível em inglês até o momento.
Prof. Marcus Renato de Carvalho
www.agostodourado.com
Report Back from SGO 2024: What’s the Latest in Cervical Cancer?bkling
Are you curious about what’s new in cervical cancer research or unsure what the findings mean? Join Dr. Emily Ko, a gynecologic oncologist at Penn Medicine, to learn about the latest updates from the Society of Gynecologic Oncology (SGO) 2024 Annual Meeting on Women’s Cancer. Dr. Ko will discuss what the research presented at the conference means for you and answer your questions about the new developments.
Ethanol (CH3CH2OH), or beverage alcohol, is a two-carbon alcohol
that is rapidly distributed in the body and brain. Ethanol alters many
neurochemical systems and has rewarding and addictive properties. It
is the oldest recreational drug and likely contributes to more morbidity,
mortality, and public health costs than all illicit drugs combined. The
5th edition of the Diagnostic and Statistical Manual of Mental Disorders
(DSM-5) integrates alcohol abuse and alcohol dependence into a single
disorder called alcohol use disorder (AUD), with mild, moderate,
and severe subclassifications (American Psychiatric Association, 2013).
In the DSM-5, all types of substance abuse and dependence have been
combined into a single substance use disorder (SUD) on a continuum
from mild to severe. A diagnosis of AUD requires that at least two of
the 11 DSM-5 behaviors be present within a 12-month period (mild
AUD: 2–3 criteria; moderate AUD: 4–5 criteria; severe AUD: 6–11 criteria).
The four main behavioral effects of AUD are impaired control over
drinking, negative social consequences, risky use, and altered physiological
effects (tolerance, withdrawal). This chapter presents an overview
of the prevalence and harmful consequences of AUD in the U.S.,
the systemic nature of the disease, neurocircuitry and stages of AUD,
comorbidities, fetal alcohol spectrum disorders, genetic risk factors, and
pharmacotherapies for AUD.
Prix Galien International 2024 Forum ProgramLevi Shapiro
June 20, 2024, Prix Galien International and Jerusalem Ethics Forum in ROME. Detailed agenda including panels:
- ADVANCES IN CARDIOLOGY: A NEW PARADIGM IS COMING
- WOMEN’S HEALTH: FERTILITY PRESERVATION
- WHAT’S NEW IN THE TREATMENT OF INFECTIOUS,
ONCOLOGICAL AND INFLAMMATORY SKIN DISEASES?
- ARTIFICIAL INTELLIGENCE AND ETHICS
- GENE THERAPY
- BEYOND BORDERS: GLOBAL INITIATIVES FOR DEMOCRATIZING LIFE SCIENCE TECHNOLOGIES AND PROMOTING ACCESS TO HEALTHCARE
- ETHICAL CHALLENGES IN LIFE SCIENCES
- Prix Galien International Awards Ceremony
Acute scrotum is a general term referring to an emergency condition affecting the contents or the wall of the scrotum.
There are a number of conditions that present acutely, predominantly with pain and/or swelling
A careful and detailed history and examination, and in some cases, investigations allow differentiation between these diagnoses. A prompt diagnosis is essential as the patient may require urgent surgical intervention
Testicular torsion refers to twisting of the spermatic cord, causing ischaemia of the testicle.
Testicular torsion results from inadequate fixation of the testis to the tunica vaginalis producing ischemia from reduced arterial inflow and venous outflow obstruction.
The prevalence of testicular torsion in adult patients hospitalized with acute scrotal pain is approximately 25 to 50 percent
- Video recording of this lecture in English language: https://youtu.be/lK81BzxMqdo
- Video recording of this lecture in Arabic language: https://youtu.be/Ve4P0COk9OI
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Lung Cancer: Artificial Intelligence, Synergetics, Complex System Analysis, S...Oleg Kshivets
RESULTS: Overall life span (LS) was 2252.1±1742.5 days and cumulative 5-year survival (5YS) reached 73.2%, 10 years – 64.8%, 20 years – 42.5%. 513 LCP lived more than 5 years (LS=3124.6±1525.6 days), 148 LCP – more than 10 years (LS=5054.4±1504.1 days).199 LCP died because of LC (LS=562.7±374.5 days). 5YS of LCP after bi/lobectomies was significantly superior in comparison with LCP after pneumonectomies (78.1% vs.63.7%, P=0.00001 by log-rank test). AT significantly improved 5YS (66.3% vs. 34.8%) (P=0.00000 by log-rank test) only for LCP with N1-2. Cox modeling displayed that 5YS of LCP significantly depended on: phase transition (PT) early-invasive LC in terms of synergetics, PT N0—N12, cell ratio factors (ratio between cancer cells- CC and blood cells subpopulations), G1-3, histology, glucose, AT, blood cell circuit, prothrombin index, heparin tolerance, recalcification time (P=0.000-0.038). Neural networks, genetic algorithm selection and bootstrap simulation revealed relationships between 5YS and PT early-invasive LC (rank=1), PT N0—N12 (rank=2), thrombocytes/CC (3), erythrocytes/CC (4), eosinophils/CC (5), healthy cells/CC (6), lymphocytes/CC (7), segmented neutrophils/CC (8), stick neutrophils/CC (9), monocytes/CC (10); leucocytes/CC (11). Correct prediction of 5YS was 100% by neural networks computing (area under ROC curve=1.0; error=0.0).
CONCLUSIONS: 5YS of LCP after radical procedures significantly depended on: 1) PT early-invasive cancer; 2) PT N0--N12; 3) cell ratio factors; 4) blood cell circuit; 5) biochemical factors; 6) hemostasis system; 7) AT; 8) LC characteristics; 9) LC cell dynamics; 10) surgery type: lobectomy/pneumonectomy; 11) anthropometric data. Optimal diagnosis and treatment strategies for LC are: 1) screening and early detection of LC; 2) availability of experienced thoracic surgeons because of complexity of radical procedures; 3) aggressive en block surgery and adequate lymph node dissection for completeness; 4) precise prediction; 5) adjuvant chemoimmunoradiotherapy for LCP with unfavorable prognosis.
2. GENETIC DISORDERS
DEFINITION
The genetic transmission of a particular
disorder from parents to offsprings.
FAMILIAL
A condition occurring in certain families but
not necessarily genetically transmitted
3. GENETIC
COUNSELING
Genetic counseling is the communication of
information and advice about inherited
conditions.
A person giving genetic advice is called
Counselor.
A person seeking genetic advice is called
consultand.
4. Stages in communication
• History and pedigree construction.
• Examination.
• Diagnosis.
• Counseling follow up.
5. Counseling steps
• Accurate diagnosis is of paramount
importance
• Both parents should be counseled and
adequate time allowed in an appropriate
setting.
• It is inappropriate to counsel too soon after the
initial shock of serious diagnosis.
6. • Counseling needs to include all
aspects of the condition, and the
depth of explanation should match the
educational background of the couple.
• A geneticist must calculate the
recurrence risk for the consultands;
• risk of more than one in ten is
considered high and of less than one
in twenty low.
7. • Consultands often feel very guilty or
stigmatized, and it is important to recognize and
alley this.
• Where there is an increased risk and specially
where the disease is significant. The possibility
of prenatal diagnosis for the condition needs
to be considered if available.
• This often encourages a couple to undertake a
further pregnancy which otherwise they would
be reluctant to risk.
• Counseling must be non directive. The aim is
to deliver a balanced version of the facts
permitting parents to make their own decision.
8. Genetically transmitted diseases
1, CHROMOSOMAL DISORDERS
Autosomal
e.g, Trisomy 21 ,13 ,18 etc
Sex chromosomes
e.g, Turner Synd, Klinefelter Synd
2, SINGLE GENE DISORDERS
Autosomal recessive
Autosomal Dominant
Sex –Linked recessive
Sex Linked – Dominant
3, MULTIFACTORIAL inheritance
15. MULTIFACTORIAL INHERITANCE
• Combination of Genetic & Environmental
factors.
• General population incidence is 1%
• For 2nd child 2—5%
• For 3rd child 10 – 15 %
• Risk for sibs & offspring is Equal
16. Prevention of genetic diseases
There are several approaches for the
avoidance of genetic disease, such as
1.Primary prevention
2.Population screening (prospective
counseling).
3.Antenatal screening (prenatal diagnosis
and selective termination)
4.Neonatal screening.
17. Primary prevention(Premarrital)
• The populations in which a particular genetic
disease is common and for which there is a
simple diagnostic test for carriers.
• School children or young adults can be
screened and given appropriate advice about
the choice of marriage partners e.g.
thalassemia. Tay sachs disease.
18. Population screening
• Programs are designed to identify
conditions that occur frequently in HIGH
RISK population
• for example, screening of pregnant
women to identify neural tube
defects, screening for down syndrome in
women over the age of 35.
19. Neonatal screening
• Neonatal screening programs confined to
conditions that are amenable to
treatment and for which a reliable test
exists like screening newborn infants
• for congenital hypothyroidism and for
phenyl ketonuria
20. Antenatal screening
• It is possible now to identify certain serious
hereditary diseases during the pre-natal
period. A couple at risk of having a child with
such a serious genetic disorder, may be
screened and selective termination of
pregnancy is done if the fetus is affected.
21. Current method of prenatal
diagnosis
First trimester
Chorionic villous sampling
Second trimester
1. Amniocentesis
i) cells DNA Analysis.
2.Fetal blood sampling.
3. Biopsy of fetal skin and liver
i) DNA Analysis
4. Ultrasound examination of fetus.
5. Fetoscopy.
6. Radiography.
22. Amniocentesis
• Usually under taken at 15-16 week of
gestation, 10-30 ml of amniotic fluid is
withdrawn into a syringe under
ultrasonographic guidance.
• Fetal loss from amniocentesis is less than
0.5%.
• Results can be provided within 14-21 days
of the amniocentesis.
23. Amniotic fluid
• Alpha feto protein level: (AFP) the level of this
constituent of amniotic fluid increases between
14-18 week of gestation and falls steadily
therefore. The level of AFP is raised in the
following conditions:
1. Anencephaly 2. meningomyelocele.
3. Encephalocele4. omphalocele
5. Congenital nephrotic syndrome.
6. total abortion.
7. Intestinal atresia 8. Rh Isoimmunization
24. Cells in the amniotic fluids
• Obtained by amniocentesis can be used
for chromosomal analysis, biochemical
assay, or DNA analysis. Two or three
weeks are needed for the cells to multiply
to a number adequate for testing.
25. Fetal blood sampling
• Fetal blood sampling is being used for
prenatal diagnosis at about 20 weeks of
gestation for diseases like thalassemia, von
willebrand,s disease, sickle cell
anemia, red cell enzymes defect and
disorder of white cell function such as
chronic granulomatous disease. This
procedure is associated with 2-5% fetal
mortality and an increased maternal
morbidity due to infection and hemorrhage.
26. Ultrasound
• Ultrasound is used to determine
gestational age, to rule out multiple
pregnancies, to determine the sex of the
fetus and to diagnose major congenital
malformations.
Fetoscopy
Direct inspection of the fetus is possible but
the risk to the fetus is about 5%. IT IS
USED FOR OBTAINING SKIN BIOPSY.
27. Chronic villus sampling (CVS)
• CVS is performed at 9-11 weeks of
pregnancy, tissue is obtained by inserting
a sampling device either trans-abdominal
or trans-cervically under ultra sound
guidance and tissue obtained. The fetal
loss after CVS is about the same as for
amniocentesis.
28. • The real advantage of CVS is early result.
Each biopsy yields 10-15 mg of tissue which
can be used for fetal sexing, total
karyotyping, biochemical studies and DNA
analysis. Fetal chromosome analysis is
possible in 24 hrs as the cells need not to be
cultured before analysis. DNA analysis and
biochemical tests can be completed in 1-2
weeks.
30. • Background: In 1866, Down described clinical
characteristics of the syndrome that now bears
his name.
• Down syndrome is by far the most common
and best known chromosome disorder in
humans.
• Mental retardation, dysmorphic facial
features, and other distinctive phenotypic traits
characterize the syndrome
• The cause of Down syndrome is full trisomy 21
in 95% of cases. Mosaicism (1%) and
translocations (4%) account for the remainder
of cases.
31. CLINICAL FEATURES
• Skull: Brachycephaly, microcephaly, flat
occiput, large fontanels with late closure,
• Eyes: Up-slanting palpebral fissures, bilateral
epicanthal folds, Brushfield spots (speckled
iris), refractive errors (50%), strabismus
(44%), nystagmus (20%),
• Nose: Hypoplastic nasal bone and flat nasal
bridge
• Mouth and teeth: An open mouth with tongue
protrusion, a fissured and furrowed tongue, tooth
agenesis, malformed teeth, delayed tooth
eruption, microdontia (35-50%)
32. • Ears: small with an over-folded helix. Chronic otitis
media and hearing loss
• Neck: Atlantoaxial instability (14%) can cause spinal
cord compression.
• Congenital heart defects: Congenital heart defects
(40-50%); endocardial cushion defect
(43%), ventricular septal defect (32%), secundum
atrial septal defect (10%),
• Gastrointestinal system (12%): Diastasis
recti, umbilical hernia. Duodenal Artesia or
stenosis, Hirsch sprung disease (less than 1%), TE
fistula, Meckel diverticulum, imperforate anus,.
• Genitourinary tract: Renal
malformations, hypospadias, micropenis, and
cryptorchidism occur.
33. • Skeleton: Short and broad
hands, clinodactyly, increased space between the
great toe and the second toe
• Endocrine system: Hypothyroidism (16-
20%), diabetes, and decreased fertility.
• Hematological system: 10- to 15-fold increased risk
of developing leukemia. Neonatal Leukemoid
reactions (ie, pseudo leukemia). Risk of hepatitis B
carrier status is increased.
• Immunodeficiency: 12-fold increased risk of
developing infectious diseases, especially
pneumonia, secondary to impaired cellular immunity.
• Skin: Xerosis, localized hyperkeratosis
lesions, alopecia areata (up to 10%), vitiligo, folliculitis,
• Dermatoglyphics: Distal axial triradius in the
palms, transverse palmar creases(simian crease).
34. • Premature aging: Decrease in skin &
Muscle tone, early graying or loss of hair.
• Growth: Short stature and obesity occurs
during adolescence.
• CNS: Moderate-to-severe mental
retardation occurs, with an IQ range of 20-
70 (mean IQ is approximately 50).
Hypotonia. Seizure disorder (5-
10%),senile dementia of Alzheimer type
• Behavior: Genuine
warmth, cheerful, gentleness, patience, an
d tolerance are characteristics.
42. INVESTIGATIONS
• Clinical diagnosis should be confirmed
with cytogenetic studies.
• Karyotyping is essential for determination
of recurrence risk.
• In translocation Down
syndrome, karyotyping of the parents and
other relatives is required for proper
genetic counseling.
• Radiological investigations.
43. • BAER: Also known as brainstem auditory
evoked response (BAER), Speech
evaluation
• Ophthalmic examination: Pediatric
ophthalmic examination for vision
screening and detection of ophthalmologic
disorders.
• Developmental chart: modified Denver
Developmental Screening Test is available
for assessing developmental milestones.
• Growth charts
44. ANTENATAL SCREENING
First trimester
Chorionic villous sampling
Second trimester
1. Amniocentesis
i) fluids. ii) cells DNA Analysis.
2.Triple screen on Maternal blood
1) Alpha fetoprotein (Low)
2) Serum unconjugated oestriol (low)
3) HCG (High)
3. Quad screen. All above+ Inhibin level
45. • MORTALITY & MORBIDITY
• Approximately 75% of concepti with trisomy 21
die in embryonic or fetal life.
• Approximately 85% of infants survive to 1 year
• 50% can be expected to live longer than 50
years.
• The presence of congenital heart disease is the
most significant factor that determines survival.
• In addition, esophageal Artesia with or without
transesophageal (TE) fistula, Hirsch sprung
disease, duodenal Artesia, and leukemia
contribute to mortality
46. Reproduction
–Affected individuals rarely reproduce.
–15-30% of females with trisomy 21 are
fertile and they have a 50% risk of
having an affected child.
–Males are always INFERTILE.
48. Genetic counseling
Trisomy 21:
–If the couple has a child with trisomy 21, the
recurrence risk is about 1%.
Translocation
–Generally in translocation, the risk of Down
syndrome in a subsequent pregnancy is
estimated at 2-3%.
–In a carrier parent with a 21q21q
translocation or isochromosome, the
recurrence risk is 100%.