Cebocephaly-holoprosencephaly in a newborn girl with a terminal 7q deletion [46,XX,del(7)(pter→q32:)]
- 1 May 1983
- journal article
- case report
- Published by Wiley in American Journal of Medical Genetics
- Vol. 15 (1), 141-144
- https://doi.org/10.1002/ajmg.1320150119
Abstract
Cytogenetic study of a day-old infant showed a terminal del(7q): 46,XX,del(7)(pter leads to q32:). This infant had cebocephaly with holoprosencephaly. These clinical findings are atypical for the 7q - syndrome, in which patients usually have growth and mental retardation with few facial abnormalities.Keywords
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