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West syndrome associated with mosaic duplication of FOXG1 in a patient with maternal uniparental disomy of chromosome 14

✍ Scribed by Jun Tohyama; Toshiyuki Yamamoto; Kana Hosoki; Keisuke Nagasaki; Noriyuki Akasaka; Tsukasa Ohashi; Yu Kobayashi; Shinji Saitoh

Publisher
John Wiley and Sons
Year
2011
Tongue
English
Weight
455 KB
Volume
155
Category
Article
ISSN
1552-4825

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We present a case of maternal uniparental heterodisomy for chromosome 2 (UPD 2) detected after trisomy 2 mosaicism was found on placental biopsy. This case presented prenatally with severe intrauterine growth restriction (IUGR) and oligohydramnios. The diploid newborn had hypospadias and features co