Initial clinical and molecular investigation of 20q13.33 microdeletion with 17q25.3/14q32.31q32.33 microduplication in Chinese pediatric patients.

ABSTRACT:

Background

Limited research has been conducted regarding the elucidation of genotype-phenotype correlations within the 20q13.33 region. The genotype-phenotype association of 20q13.33 microdeletion remains inadequately understood. In the present study, two novel cases of 20q13.33 microdeletion were introduced, with the objective of enhancing understanding of the genotype-phenotype relationship.

Methods

Two unrelated patients with various abnormal clinical phenotypes from Fujian province Southeast China were enrolled in the present study. Karyotype analysis and chromosomal microarray analysis (CMA) were performed to investigate chromosomal abnormalities and copy number variants.

Results

The results of high-resolution G-banding karyotype analysis elicited a 46,XY,der(20)

SUBMITTER: Zhuang J 

PROVIDER: S-EPMC10980884 | biostudies-literature | 2024 Apr

REPOSITORIES: biostudies-literature