Karyotype-Phenotype Correlation in Partial Trisomy 13
1981; American Medical Association; Volume: 135; Issue: 12 Linguagem: Inglês
10.1001/archpedi.1981.02130360023009
ISSN2374-3018
AutoresE Bonioli, M Crisalli, R Monteverde, M. G. Vianello,
Tópico(s)Prenatal Screening and Diagnostics
Resumo• 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)
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