Clinical and molecular cytogenetic analyses of four families with 1q21.1 microdeletion or microduplication.

ABSTRACT:

Background

Little information is available regarding the penetrance of 1q21.1 copy number variants (CNVs). In the present study, we explored the clinical significance of 1q21.1 microdeletion or microduplication.

Methods

In four families, chromosome karyotype was analyzed using G-banding karyotype analysis technology. CNVs were detected using array-comparative genomic hybridization (aCGH) and then a quantitative polymerase chain reaction (qPCR) was used to validate candidate CNVs. Sequence signature in the breakpoint region was analyzed using University of California Santa Cruz (UCSC) databases.

Results

Except for karyotype 45, XX, der (13, 14) (q10, q10) in the mother (I2) of family 2, the karyotype was normal in all other members of the four families. In the mother (

SUBMITTER: Wang HD 

PROVIDER: S-EPMC5413856 | biostudies-literature | 2017 Apr

REPOSITORIES: biostudies-literature