Trisomy for the Distal Segment of Chromosome 13
- 1 August 1974
- journal article
- case report
- Published by American Medical Association (AMA) in American Journal of Diseases of Children
- Vol. 128 (2) , 217-220
- https://doi.org/10.1001/archpedi.1974.02110270091019
Abstract
Chromosome analysis with the Giemsa banding technique was performed in a child who had multiple congenital anomalies. A duplication of the distal one third of the long arm of chromosome 13 was found. This was traced to a pericentric inversion of a chromosome 13 and crossing-over within the meiotic inversion loop in the mother. A review of previously reported cases of partial trisomy for the distal segment of the long arm of chromosome 13 suggests the existence of a clinical entity distinct from the full trisomy.Keywords
This publication has 4 references indexed in Scilit:
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- Chromosome 18: A topologic approachThe Journal of Pediatrics, 1965
- NUCLEAR ABNORMALITIES OF THE NEUTROPHILS IN D1 (13-15)-TRISOMY SYNDROMEThe Lancet, 1964
- DEVELOPMENTAL HEMOGLOBIN ANOMALIES IN A CHROMOSOMAL TRIPLICATION: D 1 TRISOMY SYNDROMEProceedings of the National Academy of Sciences, 1964