123...

 

3q29 deletion sendromu

Spontan - Kromozom anomalisi

İri kulaklar

Belirgin burun sırtı

İnce üst dudak

Mine hipoplazisi

Yaygın çürükler

Diş dizisi bozuklukları

Maloklüzyon

Kesicilerarası diastema

Makrodonti

Mikrodonti

Hipodonti

Kalp defekti (patent ductus arteriosus)

Beslenme güçlüğü

Gastrointestinal patolojiler (gastroözofageal reflü)

Toraks malformasyonları

Uzun el parmakları

Nöropsikiyatrik bulgular (agresyon, otizm, psikoz)

Konuşmada gecikme

Zeka geriliği

 

  • Pagon RA, Adam MP, Ardinger HH, et al., eds. “GeneReviews® Seattle (WA): University of Washington, Seattle; 1993-2017 (internet)

  • Willatt L, Cox J, John Barber J, et al. 3q29 Microdeletion Syndrome: Clinical and Molecular Characterization of a New Syndrome, American Journal of Human Genetics, 77(1):154-160, 2005

  • Cox DM, Butler MG. A clinical case report and literature review of the 3q29 microdeletion syndrome. Clinical Dysmorphology, 24:89–94, 2015

  •  Glassford MR, Rosenfeld JA, Freedman AA, et al. Unique Rare Chromosome Disorder Support Group. Novel features of 3q29 deletion syndrome: Results from the 3q29 registry. American Journal of Medical Genetics A, 170A:999–1006, 2016