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Paediatric

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Genetic Disorders

Question
5 out of 49
 

All of the following conditions have autosomal dominant inheritance except (AIIMS May 2014)



A Fabry disease

B Marfan's syndrome

C Osteogenesis imperfecta

D Ehlers Danlos syndrome

Ans. A

Fabry's disease

Autosomal dominant disorders

o Normally a gene pair has two alleles.

o When one allele becomes abnormal due to mutation it is called heterozygous state.

o When both the alleles become abnormal due to mutation it is called homozygous state.

o Autosomal dominant disorders are manifested in heterozygous state, i.e. only if one allel is abnormal the disease will be manifested.

Autosomal dominant disorders

Nervous

Urinary

GIT

Hematological

Skeletal

Metabolic

Huntigton discase

Neurofibromatosis

Myotonic dystrophy

Tuberous sclerosis

Retinoblastoma

Polycystic kidney

Familial polyposis coli

Hereditary spherocytosis

Von-Willibrand disease

Marfan syndrome

EDS (some variant)

Osteogenesis imperfect

Achondroplasia

Familia hypercholesterolemia

Acute intermittent porphyria

o Note - Ehlers - Danlos syndrome (EDS) has all three mendelian pattern of inheritance.

Genetic Disorders Flashcard List

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