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

• Principais autores: Ji Young Choi (Autor), Ja Un Moon (Autor), Da Hye Yoon (Autor), Jisook Yim (Autor), Myungshin Kim (Autor), Min Ho Jung (Autor)
• Formato: Livro
• Publicado em: MDPI AG, 2022-07-01T00:00:00Z.
• Assuntos: article
• Acesso em linha: Connect to this object online.

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...