Coexistence of urogenital malformations in a female fetus with de novo 15q24 microdeletion and a literature review.

ABSTRACT:

Background

15q24 microdeletion is a relatively new syndrome caused by nonallelic homologous recombination (NAHR) between low-copy repeats (LCRs) in the 15q24 chromosome region. This syndrome is characterized by a spectrum of clinical symptoms including global developmental delay, intellectual disability, facial dysmorphisms, and congenital malformations of the extremities, eye, gastrointestinal tract, genitourinary system, and genitalia.

Method

Molecular cytogenetic analysis was performed using whole genome single-nucleotide polymorphism (SNP) microarray analysis. Autopsy examination including gross and microscopic examination were performed. In addition, a thorough review of the literature on 15q24 microdeletion was completed and summarized in table format.

Result

Mo

SUBMITTER: Liu Y 

PROVIDER: S-EPMC7336734 | biostudies-literature | 2020 Jul

REPOSITORIES: biostudies-literature