Abnormality of chromosome 16 and its phenotypic expression |
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| Authors: | N. L. Golden R. Bilenker W. E. Johnson J. A. Tischfield |
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| Affiliation: | Departments of Pediatrics and Biology Case Western Reserve University, Cleveland, Ohio, U.S.A |
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| Abstract: | 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. |
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| Keywords: | Partial trisomy 16p |
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