Recurrent deletions and duplications of chromosome 2q11.2 and 2q13 are associated with variable outcomes

Kacie N Riley; Lisa M Catalano; John A Bernat; Stacie D Adams; Donna M Martin; Seema R Lalani; Ankita Patel; Rachel D Burnside; Jeffrey W Innis; M Katharine Rudd

doi:10.1002/ajmg.a.37269

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Recurrent deletions and duplications of chromosome 2q11.2 and 2q13 are associated with variable outcomes

Journal article

Peer reviewed

Recurrent deletions and duplications of chromosome 2q11.2 and 2q13 are associated with variable outcomes

Kacie N Riley, Lisa M Catalano, John A Bernat, Stacie D Adams, Donna M Martin, Seema R Lalani, Ankita Patel, Rachel D Burnside, Jeffrey W Innis and M Katharine Rudd

American journal of medical genetics. Part A, Vol.167A(11), pp.2664-2673

11/2015

DOI: 10.1002/ajmg.a.37269

PMID: 26227573

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Abstract

Copy number variation (CNV) in the long arm of chromosome 2 has been implicated in developmental delay (DD), intellectual disability (ID), autism spectrum disorder (ASD), congenital anomalies, and psychiatric disorders. Here we describe 14 new subjects with recurrent deletions and duplications of chromosome 2q11.2, 2q13, and 2q11.2-2q13. Though diverse phenotypes are associated with these CNVs, some common features have emerged. Subjects with 2q11.2 deletions often exhibit DD, speech delay, and attention deficit hyperactivity disorder (ADHD), whereas those with 2q11.2 duplications have DD, gastroesophageal reflux, and short stature. Congenital heart defects (CHDs), hypotonia, dysmorphic features, and abnormal head size are common in those with 2q13 deletions. In the 2q13 duplication cohort, we report dysmorphic features, DD, and abnormal head size. Two individuals with large duplications spanning 2q11.2-2q13 have dysmorphic features, hypotonia, and DD. This compilation of clinical features associated with 2q CNVs provides information that will be useful for healthcare providers and for families of affected children. However, the reduced penetrance and variable expressivity associated with these recurrent CNVs makes genetic counseling and prediction of outcomes challenging. © 2015 Wiley Periodicals, Inc.

Chromosome Deletion

Chromosomes, Human, Pair 2 - genetics

Chromosome Duplication

Pedigree

Humans

Adolescent

Child, Preschool

Female

Infant

Male

DNA Copy Number Variations - genetics

Child

Details

Title: Subtitle: Recurrent deletions and duplications of chromosome 2q11.2 and 2q13 are associated with variable outcomes
Creators: Kacie N Riley - Department of Cytogenetics, Laboratory Corporation of America Holdings, Center for Molecular Biology and Pathology, Research Triangle Park, North Carolina
Lisa M Catalano - Department of Human Genetics, Emory University School of Medicine, Atlanta, Georgia
John A Bernat - Department of Pediatrics and Communicable Diseases, University of Michigan, Ann Arbor, Michigan
Stacie D Adams - Department of Pediatrics and Communicable Diseases, University of Michigan, Ann Arbor, Michigan
Donna M Martin - Department of Human Genetics, University of Michigan, Ann Arbor, Michigan
Seema R Lalani - Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas
Ankita Patel - Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas
Rachel D Burnside - Department of Cytogenetics, Laboratory Corporation of America Holdings, Center for Molecular Biology and Pathology, Research Triangle Park, North Carolina
Jeffrey W Innis - Department of Human Genetics, University of Michigan, Ann Arbor, Michigan
M Katharine Rudd - Department of Human Genetics, Emory University School of Medicine, Atlanta, Georgia
Resource Type: Journal article
Publication Details: American journal of medical genetics. Part A, Vol.167A(11), pp.2664-2673
DOI: 10.1002/ajmg.a.37269
PMID: 26227573
NLM abbreviation: Am J Med Genet A
ISSN: 1552-4825
eISSN: 1552-4833
Grant note: R01MH092902 / NIMH NIH HHS R01DC009410 / NIDCD NIH HHS R01 MH092902 / NIMH NIH HHS
Language: English
Date published: 11/2015
Academic Unit: Stead Family Department of Pediatrics; Medical Genetics and Genomics
Record Identifier: 9984093345802771

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