title: 3p14 deletion is a rare contiguous gene syndrome: report of 2 new patients and an overview of 14 patients.
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.
authors.affiliation: Department of Clinical Genetics, Guy's Hospital, London, United Kingdom.
authors.forename: B I
authors.initials: BI
authors.lastname: Dimitrov
authors.affiliation: Genetics Laboratories, Guy's Hospital, London, United Kingdom.
authors.forename: C
authors.initials: C
authors.lastname: Ogilvie
authors.affiliation: Institut für Humangenetik, Universitätsklinikum Essen, Universität Duisburg-Essen, Essen, Germany.
authors.forename: D
authors.initials: D
authors.lastname: Wieczorek
authors.affiliation: North West Thames Regional Genetic Service, North West London Hospitals, NHS Trust, London, United Kingdom.
authors.forename: E
authors.initials: E
authors.lastname: Wakeling
authors.affiliation: Department of Genetics, University Medical Centre Groningen, University of Groningen, Groningen, The Netherlands.
authors.forename: B
authors.initials: B
authors.lastname: Sikkema-Raddatz
authors.affiliation: Department of Genetics, University Medical Centre Groningen, University of Groningen, Groningen, The Netherlands.
authors.forename: C M A
authors.initials: CM
authors.lastname: van Ravenswaaij-Arts
authors.affiliation: Department of Clinical Genetics, Guy's Hospital, London, United Kingdom.
authors.forename: D
authors.initials: D
authors.lastname: Josifova
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology; D002648:Child; D002675:Child, Preschool; D002872:Chromosome Deletion; D002874:Chromosome Mapping; D002893:Chromosomes, Human, Pair 3 / Q000737:chemistry*; D002658:Developmental Disabilities / Q000235:genetics* / Q000473:pathology; D005260:Female; D005838:Genotype; D006801:Humans; D007223:Infant; D008297:Male; D010641:Phenotype; D012720:Severity of Illness Index; D013577:Syndrome
keywords: chromosome 3p; contiguous gene syndrome; developmental delay; hearing loss; microdeletion