18p Deletion Syndrome Originating from Rare Unbalanced Whole-Arm Translocation between Chromosomes 13 and 18: A Case Report and Literature Review

18p deletion (18p-) syndrome is a rare chromosome abnormality that has a wide range of phenotypes, with short stature, intellectual disability, and facial dysmorphism being the main clinical features. Here, we report the first case in Korea of a 16-year-old male adolescent with 18p- syndrome resulti...

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Detalles Bibliográficos
Autores principales: Choi, Ji Young, Moon, Ja Un, Yoon, Da Hye, Yim, Jisook, Kim, Myungshin, Jung, Min Ho
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9316892/
https://www.ncbi.nlm.nih.gov/pubmed/35883971
http://dx.doi.org/10.3390/children9070987

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9316892/
https://www.ncbi.nlm.nih.gov/pubmed/35883971
http://dx.doi.org/10.3390/children9070987

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