Intellectual disability in two Chinese sisters caused by a 3p26.3p25.3 microdeletion and a 14q32.13q32.33 microduplication inherited from the mother with 46, XX, t (3, 14) (p25; q32)

Abstract Background Genetic factors associated with intellectual disability (ID) include chromosomal aberrations, copy number variations (CNVs), and pathogenic variants. Identifying the genetic etiologies is beneficial for patient classification, therapy, management, and prognostic evaluation. Emerg...

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Үндсэн зохиолчид:	Ying Dai, Yongjuan Wei, Yuanyuan Chen, Hui Guo, Min Zhong
Формат:	Artigo
Хэл сонгох:	Inglês
Хэвлэсэн:	Wiley 2020-08-01
Цуврал:	Molecular Genetics & Genomic Medicine
Нөхцлүүд:	balanced translocation copy number variations intellectual disability miscarriage whole‐exome sequencing
Онлайн хандалт:	https://doi.org/10.1002/mgg3.1335
Шошгууд:	Шошго нэмэх Шошго байхгүй, Энэхүү баримтыг шошголох эхний хүн болох!