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Polymicrogyria is an uncommon manifestation in 22q11.2 deletion syndrome

✍ Scribed by Kawame, Hiroshi ;Kurosawa, Kenji ;Akatsuka, Akira ;Ochiai, Yukikatsu ;Mizuno, Katsumi


Publisher
John Wiley and Sons
Year
2000
Tongue
English
Weight
83 KB
Volume
94
Category
Article
ISSN
0148-7299

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## Abstract Polymicrogyria is a brain malformation due to abnormal cortical organization. Two histological types, unlayered or four‐layered can be distinguished. Polymicrogyria is a rare manifestation of chromosome 22q11 deletion syndrome. We report two boys with chromosome 22q11 deletion syndrome

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## Abstract Familial 22q11.2 deletions have been reported as a 6%–28% of the total affected cases of 22q11.2 microdeletion syndrome (del22q11.2). Different deletion genotypes have been described for this disorder, with a predominant 3 Mb deletion present in 90% of the cases, a less common 1.5–2 Mb