A Case of Partial Short Arm Deletion in Chromosome 9 with Inguinal Hernia, Testicular Cystic Lesion, and Arthrogryposis Multiplex Congenita.
- Author:
Eun Jeong KIM
1
;
Sung Hoon CHUNG
;
Tae Sung PARK
;
Yong Sung CHOI
Author Information
- Publication Type:Case Report
- Keywords: Short arm deletion; Chromosome 9; Inguinal hernia; Arthrogryposis
- MeSH: Arm*; Arthrogryposis*; Chromosome Aberrations; Chromosomes, Human, Pair 9*; Contracture; Craniosynostoses; Extremities; Hernia, Inguinal*; Humans; Infant; Intellectual Disability; Joints; Male; Phenotype
- From:Neonatal Medicine 2017;24(2):88-91
- CountryRepublic of Korea
- Language:English
- 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.
