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Cebocephaly-holoprosencephaly in a newborn girl with a terminal 7q deletion [46,XX,del(7)(pter→q32:)] |
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| Authors: | Stuart Schwartz Joann Meekins Susan R. Panny Chen-Chih J. Sun Maimon M. Cohen John M. Opitz |
| Abstract: | Cytogenetic study of a day-old infant showed a terminal del(7q): 46,XX,del(7)(pter→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: | cebocephaly holoprosencephaly 7q deletion multiple congenital anomalies aneuploidy syndrome |