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Holoprosencephaly: Association with interstitial deletion of 2p and review of the cytogenetic literature

✍ Scribed by Münke, Maximilian ;Emanuel, Beverly S. ;Zackai, Elaine H.

Publisher
John Wiley and Sons
Year
1988
Tongue
English
Weight
631 KB
Volume
30
Category
Article
ISSN
0148-7299

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✦ Synopsis

Chromosome analysis with high-resolution banding showed a small de novo interstitial deletion of chromosome 2(p21 -p22.2) in an infant with holoprosencephaly. This is the first such observation. There is a well-known association with abnormalities of chromosome 13 (most commonly trisomy 13, but also dup(l3q) and del(l3q) and chromosome 18 (most often del(l8p), but also trisomy 18). Review of the literature also showed duplications of 3p and deletions of 7q to be causes of the holoprosencephaly defect.

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