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International Journal of Pediatrics، جلد ۱۰، شماره ۱۲، صفحات ۱۷۱۸۷-۱۷۱۹۱
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عنوان انگلیسی A rare case of partial trisomy 9q with dysmorphic clinical features and Hirschsprung’s disease
چکیده انگلیسی مقاله 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. 
کلیدواژه‌های انگلیسی مقاله Facial abnormality, Duplication 9q
نویسندگان مقاله | 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
نشانی اینترنتی https://ijp.mums.ac.ir/article_21352.html
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زبان مقاله منتشر شده en
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نوع مقاله منتشر شده case report
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