A 6.3 Mb maternally derived microduplication of 20p13p12.2 in a fetus with Brachydactyly type D and related literature review

With the introduction of genetic tests such as chromosomal microarray analysis (CMA) and exome sequencing (ES) into fetal medical practices, genotype –phenotype correlations in intrauterine-onset disorders have...

Source: Molecular Cytogenetics - February 28, 2022 Category: Molecular Biology Authors: Guangquan Chen, Shiyi Xiong, Gang Zou, Fengyu Wu, Xiaoxing Qu, Salem Alawbathani and Luming Sun Tags: Research Source Type: research