Saeedeh Vahedi - Hope Generation Genetic & Feto Maternal Clinic, Mashhad, Iran
Mahdieh Vahedi - Department of Pediatrics, Mashhad University of Medical Sciences, Mashhad, Iran
Farzaneh Mirzaei - Department of Medical Genetics and Molecular Medicine, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran
Narjes Soltani - Department of Hematology and Blood Bank, Faculty of Medicine, Cancer Molecular Pathology Research Center, Ghaem Medical Center Mashhad University of Medical Sciences, Mashhad, Iran.
Hayedeh Pazhand Birjandi - Pediatric Dentistry Department, Mashhad University of Medical Sciences, Mashhad, Iran

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. 

Facial abnormality, Duplication ۹q