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A case of double trisomy in a liveborn infant: 48, XXY, + 13
Author(s) -
Mailhes John B.,
Moore Charleen M.,
Gershanik Juan J.
Publication year - 1977
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.1399-0004.1977.tb01292.x
Subject(s) - microphthalmia , microcephaly , karyotype , renal agenesis , trisomy , tetralogy of fallot , microphthalmos , hypospadias , biology , medicine , anatomy , genetics , chromosome , heart disease , gene , kidney
Ambiguous genitalia, microcephaly, microphthalmia, hypotelorisrn, single choanal opening, low‐set ears, simian creases, Tetralogy of Fallot, bilateral hydronephrosis, and absence of the left ureter characterized an infant that died 1 hour postpartum with the karyotype 48,XXY,+13.