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

Vahedi, Saeedeh; Vahedi, Mahdieh; Mirzaei, Farzaneh; Soltani, Narjes; Pazhand Birjandi, Hayedeh

doi:10.22038/ijp.2022.65927.5039

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

Document Type : case report

Authors

Saeedeh Vahedi ¹

Mahdieh Vahedi ²

Farzaneh Mirzaei ³

Narjes Soltani ⁴

Hayedeh Pazhand Birjandi ⁵

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

10.22038/ijp.2022.65927.5039

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

Facial abnormality

Duplication 9q

Fan J, Zhou J, Lin D, Guo Y, Li S, Zhang S, Liang L, Yan L. Partial trisomy 9p and 14q microduplication in a patient with growth retardation: a case report and review of the literature. J Pediatr Endocrinol Metab. 2020; 33(3):431-436. Doi: 10.1515/jpem-2019-0246.
Dhangar, S., Korgaonkar, S., & Venditti, B. R. (2019). Partial trisomy 9 (9pter->9q22.1) and partial monosomy 14 (14pter- >14q11.2) due to paternal translocation t (9; 14) (q22.1; q11.2) in a case of Dysmorphic features. Intractable & rare diseases research, 8(1), 72–77. https://doi.org/10.5582/irdr.2019.01000
López‐Félix J., Flores‐Gallegos L., Garduño‐Zarazúa L., Leis‐Márquez T., Juárez‐García L., Meléndez‐Hernández R., Castelazo‐Morales E., and Mayén‐Molina D. "Partial trisomy 9: prenatal diagnosis and recurrence within same family". Clin Case Rep. 2017; 5(6): 986-992.
Ma J., Cram D.S., Zhang J., Shang L., Yang H. and Pan H. "Birth of child with trisomy 9 mosaicism syndrome associated with paternal isodisomy 9: case of a positive noninvasive prenatal test result unconfirmed by invasive prenatal diagnosis". Mol cytogenet. 2015; 8:44.
Tiong K, Cotterill A, Falhammar H." Adult case of partial trisomy 9q". BMC Med Genet. 2010; 11: 26.
Technical genetic content provided by Iosif Lurie and David Adler.hum_09.gif. 1994: 11-12.
Hengstschläger M., Prusa A.R., Repa C., Drahonsky R., Deutinger J., Pollak A. and Bernaschek G. "Patient with partial trisomy 9q and learning disability but no pyloric stenosis". Dev Med Child Neurol. 2004; 46: 57–59.
Heller A., J Seidel, A Hübler, H Starke, V Beensen, G Senger, M Rocchi, J Wirth, I Chudoba, U Claussen, T Liehr."Molecular cytogenetic characterization of partial trisomy 9q in a case with pyloric stenosis and a review". J Med Genet .2000; 37(7): 529-532.
Turleau C, Grouchy Jd, Chavin-Colin F, Roubin M, Brissaud PE, Repessé G, Safar A, Borniche P. "Partial trisomy 9q: a new syndrome". Hum Genet. 1975; 29: 233-241.
Nampoothiri S, Lakshman LR, Anilkumar A, Thampi MV. "Partial trisomy 9q due to maternal 9q 17q translocation". Indian Pediatr. 2008; 45 (7): 595-598.
Stoll C., Chognot D., Halb A., Luckel J.C. "Trisomy 9 mosaicism in two girls with multiple congenital malformations and mental retardation". J Med Genet. 1992; 30: 433-435.
Mantagos S., McReynolds J.W., Seashore M. R, and Breg W. R. "Complete trisomy 9 in two liveborn infants". J Med Genet. 1981 Oct; 18(5): 377-382.
Kenny SE, Tam PK, Garcia-Barcelo M. Hirschsprung’s disease. Semin Pediatr Surg. 2010; 19 (3): 194-200.