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Trisomy of chromosome 20
Author(s) -
Pan Sylvia F.,
Fatora S. Robert,
Haas Joel E.,
Steele Mark W.
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.tb01595.x
Subject(s) - autopsy , dysplasia , trisomy , pathology , chromosome , aneuploidy , lung , medicine , congenital malformations , biopsy , biology , genetics , anatomy , pregnancy , gene
A neonate with unusual facial features and multiple congenital malformations expired at 4 hours of age. An autopsy revealed severe anomalies of the gastrointestinal system and spinal dysplasia. Cytogenetic evaluation of fibroblasts cultured from a lung biopsy revealed a karyotype of 47, XX,+20.