Most common cardio vascular abnormality in dow n syndrome is-
Ans. is 'b' i.e., Endocardial cushion defect o About 40% of down syndrome have CHD.Endocardial cusion A trio ventricular septal defect account for 40-60% of cases.Other feature in down syndrome.Hypotonia, flat face, upward and slanted palpebral fissures and epicanthic folds, speckled irises (Brushfield spot);varving degrees of mental and growth retardation;dvsplasia of the pelvis, cardiac malformations, and simian crease; short, broad hands, hypoplasia of middle phalanx of 5th finger, duodenal atresia, and high arched palate ;5% of patients with Down syndrome are the result of a translocation-t( 14q2 lq), t( 15q2 lq), and t( 13q21 q)-in which the phenotype is the same as trisomy 21.Other feature -Duodenal atresiaAnnular pancreasTracheoesophageal fistulaHirschsprung diseaseShort statureShort sternumBrachvcephalvDelayed fontanel closureThree fontanelsFrontal sinus hypoplasiaPeripheral joint laxityAtlantoaxial instability (C1-C2 subluxation)Exaggerated space betweenMottled skin in infancy13) Dry coarse skin in adolescence 1st and 2nd toesIncreased Risk for Development of -Leukemia:AML, ALLMyelodysplasiaTransient lymphoproliferative syndromeCeliac disease a Hypothyroidism a Diabetes mellitus a ObesityRefractive errorsStrabismusMitral valve prolapseConductive and/orObstructive sleep apneaEpilepsy sensorineural hearing loss a ADHD 'Alzheimer diseaseConduct oppositional disorders
YSD
Endocardial cushion defect
TOF
COA
Genetics of Common Disorders