Down Syndrome

Down Syndrome

Its time to test your knowledge

Multiple Choice

Which of the following is the Karyotyping for Down syndrome?

• 45XO

• 46XX

• 47XY+13

• 47XY+18

• 47XY+21

Multiple Choice

Which of the following is the commonest cause of Down syndrome?

• Trinucleotide expansion

• Non disjunction of chromosome

• Mosaicism

• Translocation

Multiple Choice

Which of the following is the commonest cause of congenital heart defect in newborn with Down syndrome?

• Persistent ductus arteriosus

• Atrioventricular defect

• Pulmonary stenosis

• Atrial septal defect

Multiple Select

Which of the following were clinical features of Down syndrome?

• Single palmar crease

• Elfin like eyes

• Macroglossia

• webbed neck

• Flat nasal bridge

Multiple Choice

A day 3 of life term newborn girl was suspected to be having trisomy 21 in view of dysmorphic features. The mother raised the concern of her baby has not passing motion since birth and developed abdominal distension. Per abdominal examination noted distended abdomen with gushing of air on per rectal. What is the possible diagnosis of this baby?

• necrotizing enterocolitis

• Pyloric stenosis

• Hirschprung disease

Open Ended

List down 2 possible endocrine complication and 2 possible hematology complication of down syndrome