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Paediatric

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Genetic Disorders

Question
9 out of 49
 

Study the following carefully - (AIIMS May 2013)

Read the pedigree. Inheritance pattern of the disease in the family is -



A Autosomal recessive
B Autosomal dominant

C X-Linked dominant
D X-Linked recessive

Ans. D

X Linked Recessive

o Similar to above question, only males are manifesting disease and females are acting as carrier

o It will be easier to solve this question if I will change the represention of Pedigree

XY (Normal male) XbX (Carrier female)

YX XdX XY XdY XX

(Normal male) (Carrier female) (Normal male) (Affected male) (Normale female)

XdY XdY XY XY XdX XX

o The Pedgree starts from normal male and carrier female.

o Carrier female transfer the mutated X-chromosome to half the male children and half of the female children.

o Second generation pedgree starts when one of the carrier female marries to normal male.

o Here also she transfer her mutated X-chromosome to half of the male children and to half of the female children. Also know

X-linked recessive disorders

Musculoskeletal

Duchene muscular dystrophy

Hematological

Hemophilia A & B

Chronic granulomatous dis.

G-6-PD deficiency

Immune

Agammaglobulinemia

Wiskott-Aldrich syndr.

Metabolic

Diabetes insipidus

Lesch-Nyhan syndrome

Nervous

Fragile-X-syndrome

Colour blindness

X-linked domainant disorder

Vitamine D resistant rickets

Familial hypophosphatemia

Genetic Disorders Flashcard List

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