A Case of Partial Short Arm Deletion in Chromosome 9 with Inguinal Hernia, Testicular Cystic Lesion, and Arthrogryposis Multiplex Congenita.

Kim,  Eun Jeong; Chung,  Sung Hoon; Park,  Tae Sung; Choi,  Yong Sung

doi:2017.24.2.88

Neonatal Med > Volume 24(2); 2017 > Article

Case Report

Neonatal Medicine 2017;24(2):88-91.
DOI: https://doi.org/10.5385/nm.2017.24.2.88 Published online May 31, 2017.

A Case of Partial Short Arm Deletion in Chromosome 9 with Inguinal Hernia, Testicular Cystic Lesion, and Arthrogryposis Multiplex Congenita.

Eun Jeong Kim, Sung Hoon Chung, Tae Sung Park, Yong Sung Choi

¹Department of Pediatrics, Kyung Hee University School of Medicine, Seoul, Korea. feelhope@khu.ac.kr
²Department of Laboratory Medicine, Kyung Hee University School of Medicine, Seoul, Korea.

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.

Key Words: Short arm deletion; Chromosome 9; Inguinal hernia; Arthrogryposis