Copy Number Alterations Associated with Schinzel-Giedion Syndrome: Case Report-Reference-Cited by-同舟云学术

Copy Number Alterations Associated with Schinzel-Giedion Syndrome: Case Report

Published:2024-03-28 Issue:2 Volume:14 Page:106-108
ISSN:2667-7180
Container-title:Journal of Contemporary Medicine
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Author:

Ozcan Elif Sena¹^ORCID,Hekimoğlu Gulam²^ORCID,Yener Sevim³^ORCID,Yücel Nurullah⁴^ORCID

Affiliation:

1. ALTINBAŞ ÜNİVERSİTESİ, TIP FAKÜLTESİ, TEMEL TIP BİLİMLERİ BÖLÜMÜ, ANATOMİ ANABİLİM DALI

2. SAĞLIK BİLİMLERİ ÜNİVERSİTESİ, HAMİDİYE ULUSLARARASI TIP FAKÜLTESİ, TEMEL TIP BİLİMLERİ BÖLÜMÜ, HİSTOLOJİ VE EMBRİYOLOJİ ANABİLİM DALI

3. UNIVERSITY OF HEALTH SCIENCES, İSTANBUL ÜMRANİYE HEALTH RESEARCH CENTER, DEPARTMENT OF SURGICAL MEDICAL SCIENCES, DEPARTMENT OF PEDIATRIC SURGERY, PEDIATRIC UROLOGY

4. SAĞLIK BİLİMLERİ ÜNİVERSİTESİ, HAMİDİYE TIP FAKÜLTESİ, TEMEL TIP BİLİMLERİ BÖLÜMÜ, ANATOMİ ANABİLİM DALI

Abstract

Schinzel-Giedion syndrome (SGS) is a highly recognizable syndrome characterized by severe mental retardation, distinctive facial features, multiple congenital malformations, and higher-level neurological deficits. Comprehending SGS is essential for customized medical treatment, genetic counseling, and furthering developmental problem research. Enhanced understanding leads to better assistance for impacted people and their families, which improves results overall. In this study, we present a case of SGS associated with 2q35-q37 duplication, 4q34.1 duplication, and 9p24.3-24.1 deletion.

Publisher

Cagdas Tip Dergisi: Journal of Contemporary Medicine

Reference10 articles.

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