Karyotype-phenotype correlation in partial trisomy 13. Report of a case due to maternal translocation.
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.
D000328:Adult; D002869:Chromosome Aberrations / Q000235:genetics*; D025063:Chromosome Disorders; D002900:Chromosomes, Human, 1-3; D002901:Chromosomes, Human, 13-15; D005260:Female; D006801:Humans; D007223:Infant; D007621:Karyotyping; D008297:Male; D009035:Mothers; D010641:Phenotype; D014178:Translocation, Genetic; D014314:Trisomy