Xp21 Contiguous Gene Deletion Syndrome: Diagnosis, Treatment, and a Review of the Literature on a Rare Genetic Disorder
Year: 2025
Type: article
Abstract: What is already known on this topic?CGKD usually arises from a partial deletion of the Xp21 chromosomal region, affecting genes associated with GKD, AHC, Duchenne muscular dystrophy, and other conditions that lead to various developmental abnormalities.Symptoms are related to the size of the deletion and can manifest in early life.What this study adds?CGKD is an uncommon condition.We shared our experiences with a patient diagnosed with CGKD.Our case highlights the rare yet significant clinical and genetic diversity linked to Xp21 contiguous gene deletion syndrome.We believe this case report will enhance the management of these patients.
Authors: Berna Singin, Zeynep Donbaloğlu, Ebru Barsal Çetiner, Aynur Bedel, Kürşat Çetin, Belgin Akcan Paksoy, Tarkan Kalkan, Halide Akbaş, Hale Ünver Tuhan, Mesut Parlak
Language: English
Subfield: Genetics
Domain: Life Sciences
Open Access status: gold
Estimated APC paid: $100
OpenAlex ID: W4408623489