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Pediatrics General edc8d993

All of the following conditions have autosomal dominant inheritance except -

A
Fabry disease
B
Marfan's syndrome
C
Osteogenesis imperfecta
D
Ehlers Danlos syndrome
High-Yield Explanation
Ans. is 'a' i.e., 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.

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