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Triploidy syndrome: A report on two live‐born (69, XXY) and one still‐born (69, XXX) infants
Author(s) -
Saadi A. Al,
Juliar Joseph F.,
Harm John,
Brough A. Joseph,
Perrin Eugene v.,
Chen Harold
Publication year - 1976
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.1399-0004.1976.tb01548.x
Subject(s) - syndactyly , hypertelorism , aplasia , hypoplasia , renal agenesis , hypospadias , biology , karyotype , anatomy , medicine , genetics , chromosome , gene , kidney
Two live‐born cases, 69, XXY and one stillbirth, 69, XXX are reported. Further evidence is presented to delineate the triploidy syndrome. Common external and internal features which characterize the triploidy syndrome are low‐set ears, hypertelorism, colobomata, syndactyly, simian creases, microphallus, undescended testes, scrotal aplasia, anomalous heart and hypoplasia of kidneys and adrenals. The triploidy syndrome encompasses features found in trisomies 13, 18 and 21. We suggest that the abnormal development of the triploidy infants is the result of the mentioned trisomies and their subsequent effect on the remaining genome.