De novo trisomy 9pter leads to q13.
A case of de novo trisomy 9p was observed. Cytogenetic analysis of G-, R-, Q-, and C-banded preparations revealed a karyotypic description of 47,XY,+del(9)(pter leads to q13). In addition to the principal characteristics of the 9p trisomy syndrome, the child presented with skeletal and urogenital abnormalities. It appears that certain clinical abnormalities are due to trisomy of 9q1.
D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics; D002901:Chromosomes, Human, 13-15; D002906:Chromosomes, Human, 6-12 and X; D003878:Dermatoglyphics; D006801:Humans; D007223:Infant; D007621:Karyotyping; D008297:Male; D014314:Trisomy