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)

ConclusionThe affected siblings have similar phenotype, including ID, short stature, and microcephaly. Their mother had a history of seven first ‐trimester miscarriages and one elective termination because of multiple malformations. This abnormal karyotype was also thought to be responsible for the mother's recurrent miscarriage. WES in combination with CNV‐seq analysis is very helpful for identification of the genetic causes of ID witho ut positive karyotype findings.

Source: Molecular Genetics & Genomic Medicine - June 1, 2020 Category: Genetics & Stem Cells Authors: Ying Dai, Yongjuan Wei, Yuanyuan Chen, Hui Guo, Min Zhong Tags: ORIGINAL ARTICLE Source Type: research