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Five familial cases with a trisomy 16p syndrome due to translocation
Author(s) -
Leschot N. J.,
Nef J. J. De,
Geraedts J. P. M.,
BeckerBloemkolk M. J.,
Talma A.,
Bijlsma J. B.,
Verjaal M.
Publication year - 1979
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1979.tb00991.x
Subject(s) - psychomotor retardation , trisomy , camptodactyly , chromosomal translocation , hypoplasia , agenesis , pediatrics , hypotonia , medicine , anatomy , genetics , biology , pathology , alternative medicine , gene
A clinical description is given of a syndrome present in three postnatally and two prenatal‐ly detected cases with partial trisomy 16p, caused by a familial translocation t(16;21) (pll;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.