Karyotype-Phenotype Correlation in Partial Trisomy 13
- 1 December 1981
- journal article
- research article
- Published by American Medical Association (AMA) in American Journal of Diseases of Children
- Vol. 135 (12) , 1115-1117
- https://doi.org/10.1001/archpedi.1981.02130360023009
Abstract
• A partial trisomy 13q, originating from a maternal translocation, 46,XX,t(3;13) (p26;q22), occurred in a 3-month-old infant, affected by multiple congenital anomalies. A review of the previously reported cases of partial trisomy for the distal segment of the long arm of chromosome 13 is conclusive for the existence of a distinct clinical entity; however, it is difficult to assign particular malformations to specific chromosome bands. (Am J Dis Child 1981;135:1115-1117)This publication has 6 references indexed in Scilit:
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- Partial deletions and trisomies of chromosome 13; Mapping of bands associated with particular malformationsClinical Genetics, 1976
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- Further delineation of the clinical picture of trisomy for the distal segment of chromosome 13Human Genetics, 1976
- Trisomy for the Distal Segment of Chromosome 13American Journal of Diseases of Children, 1974
- Different forms of incomplete trisomy 13. Mosaicism and partial trisomy for the proximal and distal long armHuman Genetics, 1974