Neonatal Med Search


Neonatal Med > Volume 24(2); 2017 > Article
Neonatal Medicine 2017;24(2):88-91.
DOI:    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.
2Department of Laboratory Medicine, Kyung Hee University School of Medicine, Seoul, Korea.
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


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