Familial microdeletion 18p11.32 to 18p11.31 in a Chinese family with normal phenotype

Abstract Background Chromosomal imbalances of several megabasepair in size are normally deleterious for the carrier. Still, rarely reported are so-called “unbalanced chromosome abnormalities” (UBCAs), which are either gains or losses or equally large genomic regions, but the affected person is not o...

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Bibliographic Details
Main Authors: Miaomiao Han, Lei Wei, Fang Liu, Xia Gao
Format: Article
Language:English
Published: BMC 2022-03-01
Series:Molecular Cytogenetics
Subjects:
Online Access:https://doi.org/10.1186/s13039-022-00590-5