Neonatal Med.  2017 May;24(2):88-91. 10.5385/nm.2017.24.2.88.

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

• Kim EJ
• Chung SH
• Park TS
• Choi YS

• KMID: 2379660
• DOI: http://doi.org/10.5385/nm.2017.24.2.88

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.

Keyword

Short arm deletion; Chromosome 9; Inguinal hernia; Arthrogryposis

MeSH Terms

Arm*
Arthrogryposis*
Chromosome Aberrations
Chromosomes, Human, Pair 9*
Contracture
Craniosynostoses
Extremities
Hernia, Inguinal*
Humans
Infant
Intellectual Disability
Joints
Male
Phenotype