TürkiyeResearch and clinical trials
Gene findings in 17 patients with Cornelia de Lange syndrome published from Ankara
A study published in a journal and reviewed by independent scientists. Even so, a single study is not conclusive; it needs to be replicated.
Doctors from Ankara Bilkent City Hospital studied children with Cornelia de Lange syndrome. The study includes 17 children aged 2 months to 12 years. All had the typical facial appearance and growth delay. A genetic cause was found in thirteen children. Some gene changes had never been reported before.
What does it mean for patients and families?
This is a small study from a single center. Still, it shows that this syndrome can be confirmed with gene testing in Türkiye. Families can contact a genetics unit for testing and family counseling.
Source
Scientific paper: Clinical and Molecular Findings in 17 Patients with Cornelia de Lange Syndrome: Four Novel Variants and an ANKRD11 Gene Variant. Molecular Syndromology, 2025. DOI: 10.1159/000543396 · PubMed 41230206
The source page was opened and read on October 7, 2026. Summary prepared by the Doktorclub editorial team and translated from Turkish; it has not yet been reviewed by a physician (a scientific board is being set up).
This page is translated from the Turkish original.
Related disease: Cornelia de Lange syndrome (CdLS)
This page reports a development; it is not a treatment recommendation. Your doctor decides whether a treatment is right for you.