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Pediatrics AIIMS 2019 87e68531

An affected male does not have affected children but an affected female always has affected children. Type of inheritance?

A
X linked recessive
B
Autosomal recessive
C
X linked dominant
D
Mitochondrial
High-Yield Explanation
Mitochondrial inheritance- an affected female passes disease to all her offspring but the affected male can not. Because mitochondrial dna is present in cytoplasm, the child receives cytoplasm and mitochondria of the mother's ovum. Diseases of mitochondrial inheritance- Kearn sayre syndrome Leber hereditary optic neuropathy MELAS (Mitochondrial encephalopathy, lactic acidosis, stroke like syndrome) MERRF (myoclonic epilepsy with ragged red fibres) NARP ( neuropathy ataxia retinitis pigmentosa) CPEO (Chronic progressive external ophthalmoplegia) Pearson syndrome.

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