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

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 a...

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Bibliographic Details
Published in:American journal of medical genetics. Part A 2015-06, Vol.167A (6), p.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: Article
Language:English
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
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Summary: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.
ISSN:1552-4825
1552-4833
DOI:10.1002/ajmg.a.36556