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Abnormality of chromosome 16 and its phenotypic expression
Author(s) -
Golden N. L.,
Bilenker R.,
Johnson W. E.,
Tischfield J. A.
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.tb00665.x
Subject(s) - chromosomal abnormality , abnormality , phenotype , chromosome , chromosome abnormality , biology , hypoplasia , genetics , trisomy , arthrogryposis , partial trisomy , dysostosis , karyotype , medicine , anatomy , congenital disease , gene , psychiatry
An abnormality of chromosome 16 in which there is extra genetic material present on the short arm (46, XY, 16p+) has been identified. This chromosomal aberration was associated with multiple congenital anomalies, including mid‐facial hypoplasia, arthrogryposis, and mental retardation. On the basis of the cytogenetic appearance and the phenotype of the patient, this may represent a partial 16 trisomy. Unlike most abnormalities of chromosome 16, this syndrome was compatible with life.