1. 3p14 deletion is a rare contiguous gene syndrome: report of 2 new patients and an overview of 14 patients
- Author
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B. I. Dimitrov, Caroline Mackie Ogilvie, Dagmar Wieczorek, Emma Wakeling, Birgit Sikkema-Raddatz, C.M.A. van Ravenswaaij-Arts, Dragana Josifova, Clinical Cognitive Neuropsychiatry Research Program (CCNP), and Clinical sciences
- Subjects
Male ,Candidate gene ,Genotype ,Developmental Disabilities ,Medizin ,PROXIMAL 3P ,Review ,Chromosomal rearrangement ,INTERSTITIAL DELETION ,FOXP1 ,Biology ,Bioinformatics ,Contiguous gene syndrome ,Short stature ,Severity of Illness Index ,CHARGE syndrome ,GIRL ,Genetics ,medicine ,contiguous gene syndrome ,Humans ,Abnormalities, Multiple ,Global developmental delay ,Child ,Genetics (clinical) ,hearing loss ,Case reports ,VESICOURETERAL REFLUX ,SPEECH DELAY ,Chromosome Mapping ,Infant ,ROBO2 ,Syndrome ,medicine.disease ,SHORT ARM ,developmental delay ,CHROMOSOME 3P ,Phenotype ,Child, Preschool ,Failure to thrive ,Speech delay ,Female ,Chromosomes, Human, Pair 3 ,medicine.symptom ,microdeletion ,Chromosome Deletion - Abstract
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. (c) 2015 Wiley Periodicals, Inc.
- Published
- 2013