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POLYMICROGYRIA

GENETICS

PATTERN OF INHERITANCE

There are numerous genetic causes of polymicrogyria, most occur de novo. In familial cases, all patterns of inheritance have been reported, however X-linked is the commonest pattern of inheritance. Polymicrogyria may also be acquired as a consequence of injury to the developing brain (e.g. CMV infection, hypoxia-ischemia).

KNOWN GENES

Tubulin genes - PIK3R2 (associated with macrocephaly), WDR62 (associated with microcephaly)

CHROMOSOMAL ABNORMALITIES

1p36 deletion syndrome

22q11.2 deletion syndromes (including DiGeorge syndrome)

FAMILY HISTORY

May be present (see above).

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