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A case of double trisomy in a liveborn infant: 48, XXY, "13
Clinical Genetics
|February 1, 1977
Abstract:
Ambigouous genitalia, microcephaly, microphthalmia, hyoptelorism, single choanal opening, low-set ears, simian creases, Tetralogy of Fallot, bilateral hydronephrosis, and absence of the left ureter characterized an infant the died 1 hour postpartum with the karyotype 48,XXY,+13.