18p Deletion Syndrome With a 45, XY, t (14;18) (p11.1; p11.1), Karyotype.
| Autor: | Ashgan B; Pediatrics, Faculty of Medicine, King Abdulaziz University Hospital, Jeddah, SAU., Al-Agha A; Pediatric Endocrinology, Faculty of Medicine, King Abdulaziz University Hospital, Jeddah, SAU., Alhamdani Y; Pediatrics, Faculty of Medicine, King Abdulaziz University Hospital, Jeddah, SAU., Shazly MA; Pediatric Endocrinology, Faculty of Medicine, King Abdulaziz University Hospital, Jeddah, SAU. |
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| Jazyk: | angličtina |
| Zdroj: | Cureus [Cureus] 2024 Mar 05; Vol. 16 (3), pp. e55539. Date of Electronic Publication: 2024 Mar 05 (Print Publication: 2024). |
| DOI: | 10.7759/cureus.55539 |
| Abstrakt: | 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. Competing Interests: The authors have declared that no competing interests exist. (Copyright © 2024, Ashgan et al.) |
| Databáze: | MEDLINE |
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