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Am J Med Genet. 1983 May;15(1):141-4.

Brief clinical report: cebocephaly-holoprosencephaly in a newborn girl with a terminal 7q deletion [46,XX,del(7)(pter leads to q32:)].

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.

PMID:
6859113
DOI:
10.1002/ajmg.1320150119
[Indexed for MEDLINE]
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