a rare case of partial trisomy 9q with dysmorphic clinical features and hirschsprung’s disease

Background: partial trisomy 9q 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 3-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 46,xx,der(5)t(5;9)(p15.3;q34.1),dup(9)(q33q12). this suggested a complete duplication of the long arm of chromosome 9. there was an inverted duplication of the q arm of chromosome 9 with a translocation between the long arm of chromosome 9 and the short arm of chromosome 5. the newborn had a diagnosis of hirschsprung’s disease. conclusion: the karyotyping revealed a novel chromosomal rearrangement. the partial trisomy 9q in conjunction with hirschsprung’s disease has not been reported. this condition may be due to a complete duplication of chromosome 9q or a translocation with chromosome 5p. 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 9q.