Growth retardation and congenital heart disease in a boy with a ring chromosome 6 of maternal origin

BACKGROUND: Rare chromosomal structural abnormalities, including ring chromosomes, often pose challenges to clinical genetic counselling. RESULTS: Here, we report a newborn with congenital heart disease and developmental delay who inherited ring chromosome 6 [46,XY,r(6)(p25q27)mat] from a phenotypic...

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Detalles Bibliográficos
Autores principales: Dong, Yanling, Li, Jian, Zeng, Ziye, Zhang, Xue, Liang, Mingxin, Yi, Hong, Luo, Jianyun, Li, Junnan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Brief Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8897903/
https://www.ncbi.nlm.nih.gov/pubmed/35248136
http://dx.doi.org/10.1186/s13039-022-00586-1

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