{Reference Type}: Case Reports
{Title}: 18p Deletion Syndrome With a 45, XY, t (14;18) (p11.1; p11.1), Karyotype.
{Author}: Ashgan B;Al-Agha A;Alhamdani Y;Shazly MA;
{Journal}: Cureus
{Volume}: 16
{Issue}: 3
{Year}: 2024 Mar
暂无{DOI}: 10.7759/cureus.55539
{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.