Cebocephaly-holoprosencephaly in a newborn girl with a terminal 7q deletion [46,XX,del(7)(pter→q32:)]
作者： Stuart Schwartz , Joann Meekins , Susan R. Panny , Chen-Chih J. Sun , Maimon M. Cohen
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摘要: Cytogenetic study of a day-old infant showed terminal del(7q): 46,XX,del(7)(pter leads to q32:). This had cebocephaly with holoprosencephaly. These clinical findings are atypical for the 7q - syndrome, in which patients usually have growth and mental retardation few facial abnormalities.
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sci-hub.se 参考文章(11)
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