Abnormality of chromosome 16 and its phenotypic expression
- 23 April 2008
- journal article
- research article
- Published by Wiley in Clinical Genetics
- Vol. 19 (1) , 41-45
- https://doi.org/10.1111/j.1399-0004.1981.tb00665.x
Abstract
An abnormality of chromosome 16 in which there is extra genetic material present on the short arm (46,XY,16p+) was identified. This chromosomal aberration was associated in this child 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 trisomy 16. Unlike most abnormalities of chromosome 16, this syndrome was compatible with life.Keywords
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