3p14 deletion is a rare contiguous gene syndrome: report of 2 new patients and an overview of 14 patients.

Autor: Dimitrov BI; Department of Clinical Genetics, Guy's Hospital, London, United Kingdom., Ogilvie C; Genetics Laboratories, Guy's Hospital, London, United Kingdom., Wieczorek D; Institut für Humangenetik, Universitätsklinikum Essen, Universität Duisburg-Essen, Essen, Germany., Wakeling E; North West Thames Regional Genetic Service, North West London Hospitals, NHS Trust, London, United Kingdom., Sikkema-Raddatz B; Department of Genetics, University Medical Centre Groningen, University of Groningen, Groningen, The Netherlands., van Ravenswaaij-Arts CM; Department of Genetics, University Medical Centre Groningen, University of Groningen, Groningen, The Netherlands., Josifova D; Department of Clinical Genetics, Guy's Hospital, London, United Kingdom.
Jazyk: angličtina
Zdroj: American journal of medical genetics. Part A [Am J Med Genet A] 2015 Jun; Vol. 167 (6), pp. 1223-30. Date of Electronic Publication: 2015 Apr 22.
DOI: 10.1002/ajmg.a.36556
Abstrakt: Interstitial deletions of chromosome 3p14p12 are a rare chromosome rearrangement. Twenty-six patients have been reported in the literature to date, however, a specific clinical phenotype has not yet been delineated. We describe three patients (two new) with overlapping chromosome 3p14p12 deletions and review the clinical and molecular data of 11 well-characterized, published cases. These patients had a number of features in common, such as short stature, failure to thrive, facial dysmorphism, congenital heart defects, urogenital abnormalities, neurological problems, hearing loss, and global developmental delay, suggesting that the interstitial chromosome 3p14p12 deletion gives rise to a multiple congenital anomaly syndrome. Some of the patients show clinical overlap with other complex syndromes such as CHARGE syndrome. Genotype-phenotype analysis revealed candidate genes for parts of the clinical features suggesting that the 3p14 deletion is a contiguous gene syndrome.
(© 2015 Wiley Periodicals, Inc.)
Databáze: MEDLINE
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