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Patient with Down's syndrome and male pseudohermaphroditism with a 47, XY, +21/46, X, +21 karyotype
Author(s) -
Mello R. Santos,
Souza O. A.,
Santos Mello E. M. K. Sz,
Pimentel E. C.
Publication year - 1974
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.1399-0004.1974.tb01692.x
Subject(s) - male pseudohermaphroditism , pseudohermaphroditism , karyotype , disorders of sex development , x chromosome , chromosome , medicine , biology , endocrinology , genetics , gene
The present report describes a child with Down's syndrome and male pseudohermaphroditism in whom we found a 47, XY,+21/46, X,+21 mosaic chromosome complement. Necropsy revealed both Mullerian and Wolffian structures and bilateral testes.