A rare case of partial trisomy ۹q with dysmorphic clinical features and Hirschsprung’s disease

Background: Partial trisomy ۹q is a rare condition and the newborns have a chance to survive. Depending on the size and location of the duplicated segment, clinical signs and symptoms are varied. We report a novel chromosomal rearrangement in a ۳-day-old female with some general facial abnormalities.Method: High resolution karyotyping in peripheral blood with the G-banding method was performed.Results: The method revealed ۴۶,XX,der(۵)t(۵;۹)(p۱۵.۳;q۳۴.۱),dup(۹)(q۳۳q۱۲). This suggested a complete duplication of the long arm of chromosome ۹. There was an inverted duplication of the q arm of chromosome ۹ with a translocation between the long arm of chromosome ۹ and the short arm of chromosome ۵. The newborn had a diagnosis of Hirschsprung’s disease.Conclusion: The karyotyping revealed a novel chromosomal rearrangement. The partial trisomy ۹q in conjunction with Hirschsprung’s disease has not been reported. This condition may be due to a complete duplication of chromosome ۹q or a translocation with chromosome ۵p. The facial abnormalities may be diagnosed in the clinic and genetic counseling. A patient with hirschsprung’s disease and craniofacial abnormalities should be evaluated for partial trisomy ۹q. 

Keywords:

Facial abnormality , Duplication ۹q