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A case of 46, XY, t(3q‐;14q+)mat
Author(s) -
Neu R. L.,
Barlow M. J.,
Gardner L. I.
Publication year - 1973
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.1399-0004.1973.tb01137.x
Subject(s) - omphalocele , karyotype , inguinal hernia , chromosome , biology , hernia , medicine , anatomy , genetics , general surgery , gene , pregnancy , fetus
A newborn infant with a peculiar facies, micrognathia, bifid xiphoid, hyperextensibility of the fingers, inguinal hernia, cryptorchidism, omphalocele and a 46, XY, t(3q…14q +)mal karyotype is described. The causal relationship between the karyotypic and phenotypic findings is discussed and is not considered to he related to aneusomie de recombinaison.