# 18p Deletion Syndrome With a 45, XY, t (14;18) (p11.1; p11.1), Karyotype

## TL;DR

This paper reports a rare case of 18p deletion syndrome in a Saudi male caused by a unique chromosomal translocation, emphasizing the need for understanding its genetic and clinical features.

## Contribution

The study presents a novel translocation mechanism causing 18p deletion syndrome in a pediatric patient.

## Key findings

- The patient had a 45, XY, t(14;18)(p11.1;p11.1) karyotype.
- Clinical features were consistent with 18p deletion syndrome.
- The case underscores genotype-phenotype correlations for early diagnosis.

## Abstract

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.