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Case Report
  |   Neonatal Med_24_2_88_91.pdf
Neonatal Med May;24(2):88-91.
Published online 2017 May 31
Copyright ⓒ 2017 Neonatal Medicine Neonatal Medicine
A Case of Partial Short Arm Deletion in Chromosome 9 with Inguinal Hernia, Testicular Cystic Lesion, and Arthrogryposis Multiplex Congenita
Eun Jeong Kim, M.D., Sung-Hoon Chung, M.D., Tae Sung Park, M.D.*, and Yong-Sung Choi, M.D.
Departments of Pediatrics and Laboratory Medicine*, Kyung Hee University School of Medicine, Seoul, Korea
Corresponding Author: Yong-Sung Choi , Tel: +82-2-958-8279 , Fax: +82-2-958-8304 , Email: feelhope@khu.ac.kr
ABSTRACT
Chromosome 9p syndrome is a rare chromosomal abnormality caused by a partial deletion in chromosome 9. It was first described in 1973 by Alfi et al., and has since been shown to have diverse clinical phenotypes. Here, we reported a case of a male infant with joint contracture of the extremities, dysmorphic face, inguinal hernia, and testicular cystic masses. Chromosomal analysis revealed a terminal deletion at the short arm of chromosome 9. The major clinical features of the 9p deletion syndrome are trigonocephaly, small palpebral fissures, a flat nasal bridge, and mental retardation. To the best of our knowledge, this is the first reported case of a patient with 9p24 deletion presenting with arthrogryposis multiplex congenita.
Keywords: Short arm deletion, Chromosome 9, Inguinal hernia, Arthrogryposis
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