TY - JOUR
T1 - Cebocephaly-holoprosencephaly in a newborn girl with a terminal 7q deletion [46,XX,del(7)(pter→ q32:)]
AU - Schwartz, S.
AU - Meekins, J.
AU - Panny, S. R.
PY - 1983
Y1 - 1983
N2 - 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.
AB - 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.
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U2 - 10.1002/ajmg.1320150119
DO - 10.1002/ajmg.1320150119
M3 - Article
C2 - 6859113
AN - SCOPUS:0020754685
SN - 1552-4825
VL - 15
SP - 141
EP - 144
JO - American Journal of Medical Genetics, Part A
JF - American Journal of Medical Genetics, Part A
IS - 1
ER -