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

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 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.

Chromosome 9p terminal deletion in nine Egyptian patients and narrowing of the critical region for trigonocephaly

“…Coarctation of the aorta is a rare manifestation of 9p deletion syndrome, which was reported by Koslow et al (2018) and observed in our patient 8. Other rare manifestations may be associated with 9p deletion syndrome like neonatal hyperinsulinemia/hypoglycemia (Bayata et al, 2018) and arthrogryposis multiplex congenita (Kim et al, 2017). Some authors have reported patients with 9p deletion associated with other chromosomal abnormalities.…”