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  • Title: Brief clinical report: cebocephaly-holoprosencephaly in a newborn girl with a terminal 7q deletion [46,XX,del(7)(pter leads to q32:)].
    Author: Schwartz S, Meekins J, Panny SR, Sun CC, Cohen MM.
    Journal: Am J Med Genet; 1983 May; 15(1):141-4. PubMed ID: 6859113.
    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.
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