A rare case of partial trisomy 9q with dysmorphic clinical features and Hirschsprung’s disease

Document Type : case report

Authors

1 Hope Generation Genetic & Feto Maternal Clinic, Mashhad, Iran

2 Department of Pediatrics, Mashhad University of Medical Sciences, Mashhad, Iran

3 Department of Medical Genetics and Molecular Medicine, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran

4 Department of Hematology and Blood Bank, Faculty of Medicine, Cancer Molecular Pathology Research Center, Ghaem Medical Center Mashhad University of Medical Sciences, Mashhad, Iran.

5 Pediatric Dentistry Department, Mashhad University of Medical Sciences, Mashhad, Iran

Abstract

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. 

Keywords

References

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Journal of Pediatric Perspectives
Volume 10, Issue 12
December 2022
Pages 17187-17191

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