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Caudal deficiency sequence in 7q terminal deletion

✍ Scribed by Schrander-Stumpel, Constance ;Schrander, Jaap ;Fryns, Jean-Pierre ;Hamers, Guus ;Opitz, John M. ;Reynolds, James F.


Publisher
John Wiley and Sons
Year
1988
Tongue
English
Weight
253 KB
Volume
30
Category
Article
ISSN
0148-7299

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Cytogenetic study of a day-old infant showed a terminal del(7q): 46,XX,de1(7)(pter + q32:). This infant had cebocephaly with holoprosencephaly . These clinical findings are atypical for the 7qsyndrome, in which patients usually have growth and mental retardation with few facial abnormalities.

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