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A boy with true hermaphroditism and sex chromosome mosaicism and a fertile woman with Turner mosaicism in a family with a translocation 8p:19p
Author(s) -
Annerén Göran,
Frykberg Tore,
Gustavson KarlHenrik
Publication year - 1981
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.1399-0004.1981.tb01035.x
Subject(s) - chromosomal translocation , biology , true hermaphroditism , genetics , disorders of sex development , karyotype , chromosome , y chromosome , x chromosome , turner syndrome , endocrinology , gene
In a family with a balanced translocation t(8;19)(p21p13), there was a boy with true hermaphroditism and a karyotype 46, XX/46XY, t(8p;19p), and a woman with Turner mosaicism 46, XX, t(8p;19p)/45, X, t(8p;19p). Both of them had whole body chimerism, which in the boy and possibly also in the woman was due to the occurrence of double fertilization followed by fusion of the zygotes. The pathogenetic importance of the translocation for the development of these aberrations, and the clinical picture in the two patients are discussed.