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Trisomy 3 mosaicism in a live‐born infant
Author(s) -
Metaxotou C.,
Tsenghi Ch.,
Bitzos I.,
StratakiBenetou M.,
KalpiniMavrou A.,
Matsaniotis N.
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.tb00664.x
Subject(s) - trisomy , karyotype , aneuploidy , biology , phenotype , genetics , chromosome , gene
We report on the first case of trisomy 3 detected in the lymphocytes of a live‐born infant who died at the age of 5 months. A normal 46, XX karyotype was found in skin fibroblast cultures, which could account for the child's viability and lack of gross phenotypic malformations.