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
2017 Neonatal Medicine  
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
more » ... are trigonocephaly, small palpebral fissures, a flat nasal bridge, and mental retarda tion. To the best of our knowledge, this is the first reported case of a patient with 9p24 deletion presenting with arthrogryposis multiplex congenita.
doi:10.5385/nm.2017.24.2.88 fatcat:6yulus7jbjbl3hypsemda5hqli