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December 1981

Karyotype-Phenotype Correlation in Partial Trisomy 13Report of a Case due to Maternal Translocation

Am J Dis Child. 1981;135(12):1115-1117. doi:10.1001/archpedi.1981.02130360023009

• 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)