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

• Published in: American journal of medical genetics. Part A Vol. 167A; no. 6; pp. 1223 - 1230
• Main Authors: Dimitrov, B. I., Ogilvie, C., Wieczorek, D., Wakeling, E., Sikkema-Raddatz, B., van Ravenswaaij-Arts, C. M. A., Josifova, D.
• Format: Journal Article
• Language: English
• Published: United States Blackwell Publishing Ltd 01.06.2015; Wiley Subscription Services, Inc
• Subjects: Abnormalities, Multiple - genetics; Abnormalities, Multiple - pathology; Child; Child, Preschool; chromosome 3p; Chromosome Deletion; Chromosome Mapping; Chromosomes, Human, Pair 3 - chemistry; contiguous gene syndrome; developmental delay; Developmental Disabilities - genetics; Developmental Disabilities - pathology; Female; Genotype; hearing loss; Humans; Infant; Male; microdeletion; Phenotype; Severity of Illness Index; Syndrome; developmental delay; contiguous gene syndrome; hearing loss; chromosome 3p; microdeletion
• ISSN: 1552-4825; 1552-4833
• DOI: 10.1002/ajmg.a.36556

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.