DOI: 10.36347/sjmcr.2024.v12i07.027

Pages: 1317-1320

Duplication 5q syndrome (dup 5q) is a rare genetic disorder characterized by the duplication of a specific region on long arm of chromosome 5. This case report describes an 11-day-old male infant from Dernah, Libya, who was diagnosed with dup 5q syndrome based on clinical presentation and karyotype testing. The infant presented with dysmorphic features, low set ears, closed eyes, abnormal genitalia and a left foot deformity. Karyotype analysis revealed the diagnosis of dup 5q syndrome. The infant received supportive care and was referred to a multidisciplinary team for further assessment and planning. This case highlights the importance of early recognition and diagnosis of dup 5q syndrome, as well as the need for multidisciplinary care and support for infants with this disorder. Additionally, it emphasizes the importance of ongoing research to improve the understanding, diagnosis, treatment, and long-term outcomes for individuals with dup 5q syndrome.