Medical Post Graduation | Paediatrics | Genetic disorders

Practice Medical Post Graduation | Paediatrics | Genetic disorders on Bissoy — browse topics below and open any question.

Questions

True statements regarding identify a specific genetic cause in a dysmorphic child are

ক

Family history can give clue

খ

Birth history can give clue

গ

Thorough physical examination can give clue

ঘ

PCR can accurately identify the cause

ঙ

Microarray is the definite genetic test

Prenatal diagnosis is possible in

ক

Down Syndrome

খ

Beta thalassaemia

গ

Duchene muscular dystrophy

ঘ

Laryngomalacia

ঙ

Diabetes mellitus

Following diseases are transmitted from consanguineous couple to their offspring

ক

Wilson's disease

খ

Congenital adrenal hyperplasia

গ

Galactosemia

ঘ

Huntington's chorea

ঙ

Marfan syndrome

Karyotyping is indicated in

ক

Down syndrome

খ

Recurrent loss of pregnancy

গ

Primary ammenrrhoea

ঘ

Meningomyelocele

ঙ

Fallot's Tetralogy

The correct genotype of down syndrome is/are

ক

47

খ

xy

গ

+21

ঘ

47

ঙ

xy

চ

+13 â

ছ

47

জ

xy

ঝ

+18

ঞ

45

ট

xo

ঠ

47

ড

yx

ঢ

+21

Spinal muscular atrophy

ক

Affects the peripheral nerve

খ

Associated with less fetal movements

গ

Presents with preserved intellectual function

ঘ

Associated with arthrogryposis multiplex congenita

ঙ

Is autosomal dominant disorder