Five familial cases with a trisomy 16p syndrome due to translocation.
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.
D000015:Abnormalities, Multiple / Q000235:genetics*; D002648:Child; D002902:Chromosomes, Human, 16-18; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D010375:Pedigree; D011247:Pregnancy; D013577:Syndrome; D014178:Translocation, Genetic; D014314:Trisomy