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18p Deletion Syndrome With a 45, XY, t (14;18) (p11.1; p11.1), Karyotype.
Curēus 2024 March
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.
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