Prenatal diagnosis and genetic counseling of a paternally inherited chromosome 15q11.2 microdeletion in a Chinese family

BACKGROUND: Proximal region of chromosome 15 long arm is rich in duplicons that, define five breakpoints (BP) for 15q rearrangements. 15q11.2 microdeletion has been previously associated with developmental delay, mental retardation, epilepsy, autism, schizophrenia and congenital heart defects. The l...

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Detalles Bibliográficos
Autores principales: Tang, Wenjuan, Chen, Guowei, Xia, Jingshu, Zhang, Ying
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9251932/
https://www.ncbi.nlm.nih.gov/pubmed/35787815
http://dx.doi.org/10.1186/s13039-022-00605-1

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9251932/
https://www.ncbi.nlm.nih.gov/pubmed/35787815
http://dx.doi.org/10.1186/s13039-022-00605-1

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