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Prenatal diagnosis of a 5q35.3 microduplication involving part of the ADAMTS2 locus: a likely benign variant without apparent phenotypic abnormality: Case series

RATIONALE: Chromosomal duplications are associated with a series of genetic disorders. However, chromosome 5q duplications, especially pure 5q35.3 microduplications, have rarely been reported in the literature. Clinical phenotypes usually depend on the region of chromosome duplicated, its size, and...

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Detalles Bibliográficos
Autores principales: Yue, Fagui, Yu, Yang, Xi, Qi, Zhang, Hongguo, Jiang, Yuting, Li, Shibo, Liu, Ruizhi, Wang, Ruixue
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer Health 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6919437/
https://www.ncbi.nlm.nih.gov/pubmed/31804359
http://dx.doi.org/10.1097/MD.0000000000018258