The first patient with tandem duplication of 6q14q16: Molecular and phenotypic characterization

Duplications of the long arm of chromosome 6 have been previously reported in a limited number of patients; however, most reported duplications encompass regions of chromosome 6 distal to band q21. Duplications restricted to the proximal portion of 6q are rare. We report an 8‐year‐old male with a 16...

Full description

Saved in:
Bibliographic Details
Published in:American journal of medical genetics. Part A 2016-09, Vol.170A (9), p.2416-2420
Main Authors: Sanmann, Jennifer N., Casas, Kari A., Bevilacqua, Jen, Bishay, Danielle L., Clark, Tanner, Van Dyke, A. Zephyr, Leiferman, Patricia Crotwell, Reddi, Honey V., Starr, Lois J.
Format: Article
Language:English
Subjects:
6q duplication
6q14q16
Abnormalities, Multiple
Child
Chromosome Banding
Chromosome Duplication
Chromosomes, Human, Pair 6
Comparative Genomic Hybridization
Facies
Genetic Association Studies
Genotype
Humans
immune deficiency
Male
Oligonucleotide Array Sequence Analysis
Phenotype
Polymorphism, Single Nucleotide
proximal 6q duplication
sensorineural hearing loss
Tandem Repeat Sequences
Citations: Items that this one cites
Items that cite this one
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary:Duplications of the long arm of chromosome 6 have been previously reported in a limited number of patients; however, most reported duplications encompass regions of chromosome 6 distal to band q21. Duplications restricted to the proximal portion of 6q are rare. We report an 8‐year‐old male with a 16.4 megabase (Mb) tandem duplication of chromosome 6q14.1q16.1 (chr6:78950191‐95395865; hg19) who exhibited dysmorphic facial features, seizures, global developmental delay, intellectual disability, autism spectrum disorder, sensorineural hearing loss, and immune deficiency. This patient refines and potentially expands the current, poorly‐characterized phenotype associated with duplication of this proximal 6q region. We recommend a low threshold for a hearing evaluation beyond newborn screening and for pursuing an immune work‐up in patients with similar 6q duplications. © 2016 Wiley Periodicals, Inc.
ISSN:1552-4825
1552-4833
DOI:10.1002/ajmg.a.37797