Most common chromosomal defect is:
Down's
Turner
Edward
Patau
Ans: a (Downs) Ref: Robbins, 7th ed, p. 175Down's syndrome is the most common of the chromosome disorders and a major cause of mental retardation.Cytogenetic abnormalityNon disjunction (MC) = 95%Translocation (robertsonian) = 4 %Mosaicism = 1%Increased maternal age is the main risk factor .Translocation carriers carry high recurrence risk.Clinical features:Cardiac - endocardial cushion defect (MC)HypotoniaGIT - duodenal atresia, TEF, IHPS, Hirschprung disease, annular pancreasMental retardationShort statureMusculoskeletal system - atlantoaxial dislocationMicrocephaly/ brachycephalyRespiratory - recurrent aspiration pneumoniaOpen AFEndocrine - primary gonadal defect, hypothyroidismOblique palpebral fissureHaematopoietic - increased ALL and AMLBmshfield spot. But AML has a betterprognosis than normal individualsDepressed nasal bridgesLow set earsCNS alzhiemers in patients older than 40 yearsShort neck Simian crease,clinodactyly Sandal gap between 1st and 2nd toes Kennedy crease
Genetics