Insight into the 8p23.1 duplication syndrome: Case report of a young women with infertility.

ABSTRACT:

Objective

To report the case of a young woman with repeated conception failure, whose karyotype showed an unbalanced complex chromosomal rearrangement involving a large duplication harboring >115 genes and overlapping the 8p23.1 duplication syndrome region. The 8p23.1 duplication syndrome results from a tandem duplication on the short arm of chromosome 8 containing the 4 genes (GATA4, TNKS, SOX7, XKR6) responsible for the most common phenotypic features: developmental delay/learning disabilities, congenital heart disease and dysmorphism.

Design

Case report and review of the literature.

Setting

American University of Beirut Medical Center, department of Pathology and Laboratory medicine.Patient(s): Young woman referred to the genetic clinics

SUBMITTER: El Karaaoui A 

PROVIDER: S-EPMC10130207 | biostudies-literature | 2023 Apr

REPOSITORIES: biostudies-literature