Partial trisomy 13 as a result of de novo (6p;13q) translocation.
A newborn infant with the clinical features of the Patau syndrome was found to have excess chromosome 13 material present as a tandem translocation involving the short arm of chromosome 6 and the long arm of an extra chromosome 13: 46,XY,t(6;13)(p24;q12). The major part of the long arm of the extra chromosome 13 was attached linearly (tandem translocation) to the short arm of chromosome 6. Both parents were phenotypically and karyotypically normal.
D000015:Abnormalities, Multiple / Q000235:genetics; D002901:Chromosomes, Human, 13-15; D002906:Chromosomes, Human, 6-12 and X; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D008297:Male; D013577:Syndrome; D014178:Translocation, Genetic; D014314:Trisomy