Possible intrachromosomal duplication in a case of trisomy 9p
- PMID: 1002145
- DOI: 10.1007/BF00278892
Possible intrachromosomal duplication in a case of trisomy 9p
Abstract
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.