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Karyotype 47, XXY,18p- in a newborn child with holoprosencephaly

✍ Scribed by R. Schnabel; S. Hansen


Book ID
119839470
Publisher
John Wiley and Sons
Year
2008
Tongue
English
Weight
571 KB
Volume
23
Category
Article
ISSN
0009-9163

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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.