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Cebocephaly-holoprosencephaly in a newborn girl with a terminal 7q deletion [46,XX,del(7)(pter→q32:)]

✍ Scribed by Schwartz, Stuart ;Meekins, Joann ;Panny, Susan R. ;Sun, Chen-Chih J. ;Cohen, Maimon M. ;Opitz, John M.

Publisher
John Wiley and Sons
Year
1983
Tongue
English
Weight
203 KB
Volume
15
Category
Article
ISSN
0148-7299

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✦ Synopsis

Cytogenetic study of a day-old infant showed a terminal del(7q): 46,XX,de1(7)(pter + q32:). This infant had cebocephaly with holoprosencephaly . These clinical findings are atypical for the 7qsyndrome, in which patients usually have growth and mental retardation with few facial abnormalities.

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Holoprosencephaly in a newborn girl with
Holoprosencephaly in a newborn girl with 46,XX,i(18q)
✍ Spinner, Nancy B. ;Eunpu, Deborah L. ;Austria, Jocelyn R. ;Mamunes, Peter 📂 Article 📅 1991 🏛 John Wiley and Sons 🌐 English ⚖ 204 KB 👁 1 views

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.