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

ABSTRACT:

Background

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 substantially improved. The BMP2 gene, located on the long arm of chromosome 20 plays a role in bone and cartilage development and is associated with Brachydactyly type A2, an autosomal dominant disease characterized by malformations of the middle phalanx of the index finger and abnormalities of the second toe. However, the BMP2 gene has so far never been reported as a candidate gene for Brachydactyly type D (BDD) affecting only the thumbs.

Methods and results

Here, we report one family possessing a maternally inherited 6.3 Mb microduplication of 20p13p12.2

SUBMITTER: Chen G 

PROVIDER: S-EPMC8887085 | biostudies-literature | 2022 Feb

REPOSITORIES: biostudies-literature