Possible intrachromosomal duplication in a case of trisomy 9p.
A 5-year-old boy with multiple minor anomalies and mental retardation was found to have chromosomal condition of 46,XY,inv dup(9p) (pter leads to p13::p21 leads to p24::p13 leads to qter). The clinical features of the propositus fit well with those of trisomy 9p which have been established to be a clinical entity.
D000015:Abnormalities, Multiple / Q000235:genetics; D002675:Child, Preschool; D002906:Chromosomes, Human, 6-12 and X; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics; D008297:Male; D010641:Phenotype; D014314:Trisomy