Related Experiment Video
Updated: Jul 27, 2026

07:34
FISH for Pre-implantation Genetic Diagnosis
Published on: February 24, 2011
Five familial cases with a trisomy 16p syndrome due to translocation
Clinical Genetics
|September 1, 1979
Abstract:
A clinical description is given of a syndrome present in three postnatally and two prenatally detected cases with partial trisomy 16p, caused by a familial translocation t(16;21) (p11;q22). The most consistent features of this syndrome are: low birth weight, small head circumference, low-set ears, palato(gnatho)schisis, micrognathia, thumb-agenesis or hypoplasia, hypertonia, overlapping fingers, single umbilical artery, and psychomotor retardation. The clinical picture was identical to that described by Roberts & Duckett (1978) for a single case.
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