Cebocephaly-holoprosencephaly in a newborn girl with a terminal 7q deletion [46,XX,del(7)(pter→ q32: )]

S. Schwartz, J. Meekins, S. R. Panny

Research output: Contribution to journalArticle

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.

Original languageEnglish (US)
Pages (from-to)141-144
Number of pages4
JournalAmerican Journal of Medical Genetics
Volume15
Issue number1
StatePublished - 1983
Externally publishedYes

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ASJC Scopus subject areas

  • Genetics(clinical)
  • Neuroscience(all)
  • Neuropsychology and Physiological Psychology

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