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 language||English (US)|
|Number of pages||4|
|Journal||American Journal of Medical Genetics|
|State||Published - 1983|
ASJC Scopus subject areas
- Neuropsychology and Physiological Psychology