1.
Cureus
; 16(3): e55539, 2024 Mar.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38576635
RESUMO
Monosomy 18p deletion syndrome is a rare genetic disorder. We present an uncommon case of 18p deletion syndrome originating from a unique translocation between chromosomes 14 and 18 in an 11-year-old Saudi male, manifesting various clinical features. This case highlights the importance of understanding the genotype-phenotype correlations of 18p deletion syndrome to aid in the early recognition of the syndrome for its effective diagnosis and management.