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Vahedi, Saeedeh, Vahedi, Mahdieh, Mirzaei, Farzaneh, Soltani, Narjes, Pazhand Birjandi, Hayedeh. (1401). A rare case of partial trisomy 9q with dysmorphic clinical features and Hirschsprung’s disease. , 10(12), 17187-17191. doi: 10.22038/ijp.2022.65927.5039
Saeedeh Vahedi; Mahdieh Vahedi; Farzaneh Mirzaei; Narjes Soltani; Hayedeh Pazhand Birjandi. "A rare case of partial trisomy 9q with dysmorphic clinical features and Hirschsprung’s disease". , 10, 12, 1401, 17187-17191. doi: 10.22038/ijp.2022.65927.5039
Vahedi, Saeedeh, Vahedi, Mahdieh, Mirzaei, Farzaneh, Soltani, Narjes, Pazhand Birjandi, Hayedeh. (1401). 'A rare case of partial trisomy 9q with dysmorphic clinical features and Hirschsprung’s disease', , 10(12), pp. 17187-17191. doi: 10.22038/ijp.2022.65927.5039
Vahedi, Saeedeh, Vahedi, Mahdieh, Mirzaei, Farzaneh, Soltani, Narjes, Pazhand Birjandi, Hayedeh. A rare case of partial trisomy 9q with dysmorphic clinical features and Hirschsprung’s disease. , 1401; 10(12): 17187-17191. doi: 10.22038/ijp.2022.65927.5039

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

Journal of Pediatric Perspectives
مقاله 15، دوره 10، شماره 12، اسفند 2022، صفحه 17187-17191    اصل مقاله (290.49 K)
نوع مقاله: case report
شناسه دیجیتال (DOI): 10.22038/ijp.2022.65927.5039
نویسندگان
Saeedeh Vahedi1؛ Mahdieh Vahedi2؛ Farzaneh Mirzaei* 3؛ Narjes Soltani4؛ Hayedeh Pazhand Birjandi5
1Hope Generation Genetic & Feto Maternal Clinic, Mashhad, Iran
2Department of Pediatrics, Mashhad University of Medical Sciences, Mashhad, Iran
3Department of Medical Genetics and Molecular Medicine, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran
4Department of Hematology and Blood Bank, Faculty of Medicine, Cancer Molecular Pathology Research Center, Ghaem Medical Center Mashhad University of Medical Sciences, Mashhad, Iran.
5Pediatric Dentistry Department, Mashhad University of Medical Sciences, Mashhad, Iran
چکیده
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. 
کلیدواژه‌ها
Facial abnormality؛ Duplication 9q
مراجع
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