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Holoprosencephaly in a newborn girl with 46,XX,i(18q)

✍ Scribed by Spinner, Nancy B. ;Eunpu, Deborah L. ;Austria, Jocelyn R. ;Mamunes, Peter

Publisher: John Wiley and Sons
Year: 1991
Tongue: English
Weight: 204 KB
Volume: 39
Category: Article
ISSN: 0148-7299
DOI: 10.1002/ajmg.1320390104

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✦ Synopsis

We report on a newborn girl with holoprosencephaly, microcephaly, absent right radius, and other anomalies with an 46,XX,i(lSq) chromosome constitution. This is the first report of an i(18q) in syndromal alobar holoprosencephaly.

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