Behavioral abnormalities are common and severe in patients with distal 22q11.2 microdeletions and microduplications

Valerie Lindgren; Anne McRae; Richard Dineen; Alexandria Saulsberry; George Hoganson; Michael Joel Schrift

doi:10.1002/mgg3.146

Behavioral abnormalities are common and severe in patients with distal 22q11.2 microdeletions and microduplications

Valerie Lindgren^*, Anne McRae, Richard Dineen, Alexandria Saulsberry, George Hoganson, Michael Joel Schrift

^*Corresponding author for this work

Psychiatry and Behavioral Sciences

Research output: Contribution to journal › Article › peer-review

5 Scopus citations

Abstract

We describe six individuals with microdeletions and microduplications in the distal 22q11.2 region detected by microarray. Five of the abnormalities have breakpoints in the low-copy repeats (LCR) in this region and one patient has an atypical rearrangement. Two of the six patients with abnormalities in the region between LCR22 D–E have hearing loss, which has previously been reported only once in association with these abnormalities. We especially note the behavioral/neuropsychiatric problems, including the severity and early onset, in patients with distal 22q11.2 rearrangements. Our patients add to the genotype–phenotype correlations which are still being generated for these chromosomal anomalies.

Original language	English (US)
Pages (from-to)	346-353
Number of pages	8
Journal	Molecular Genetics and Genomic Medicine
Volume	3
Issue number	4
DOIs	https://doi.org/10.1002/mgg3.146
State	Published - Jul 2015

Keywords

Distal 22q11.2 microdeletion
Distal 22q11.2 microduplication
Low copy repeats
Neuropsychiatric problems

ASJC Scopus subject areas

Genetics(clinical)
Genetics
Molecular Biology

Access to Document

10.1002/mgg3.146

Cite this

@article{736000251d9844a2a8cdc6eed4fa244a,

title = "Behavioral abnormalities are common and severe in patients with distal 22q11.2 microdeletions and microduplications",

abstract = "We describe six individuals with microdeletions and microduplications in the distal 22q11.2 region detected by microarray. Five of the abnormalities have breakpoints in the low-copy repeats (LCR) in this region and one patient has an atypical rearrangement. Two of the six patients with abnormalities in the region between LCR22 D–E have hearing loss, which has previously been reported only once in association with these abnormalities. We especially note the behavioral/neuropsychiatric problems, including the severity and early onset, in patients with distal 22q11.2 rearrangements. Our patients add to the genotype–phenotype correlations which are still being generated for these chromosomal anomalies.",

keywords = "Distal 22q11.2 microdeletion, Distal 22q11.2 microduplication, Low copy repeats, Neuropsychiatric problems",

author = "Valerie Lindgren and Anne McRae and Richard Dineen and Alexandria Saulsberry and George Hoganson and Schrift, {Michael Joel}",

note = "Publisher Copyright: {\textcopyright} 2015 The Authors. Molecular Genetics & Genomic Medicine published by Wiley Periodicals, Inc.",

year = "2015",

month = jul,

doi = "10.1002/mgg3.146",

language = "English (US)",

volume = "3",

pages = "346--353",

journal = "Molecular Genetics and Genomic Medicine",

issn = "2324-9269",

publisher = "John Wiley & Sons Inc.",

number = "4",

}

TY - JOUR

T1 - Behavioral abnormalities are common and severe in patients with distal 22q11.2 microdeletions and microduplications

AU - Lindgren, Valerie

AU - McRae, Anne

AU - Dineen, Richard

AU - Saulsberry, Alexandria

AU - Hoganson, George

AU - Schrift, Michael Joel

PY - 2015/7

Y1 - 2015/7

N2 - We describe six individuals with microdeletions and microduplications in the distal 22q11.2 region detected by microarray. Five of the abnormalities have breakpoints in the low-copy repeats (LCR) in this region and one patient has an atypical rearrangement. Two of the six patients with abnormalities in the region between LCR22 D–E have hearing loss, which has previously been reported only once in association with these abnormalities. We especially note the behavioral/neuropsychiatric problems, including the severity and early onset, in patients with distal 22q11.2 rearrangements. Our patients add to the genotype–phenotype correlations which are still being generated for these chromosomal anomalies.

AB - We describe six individuals with microdeletions and microduplications in the distal 22q11.2 region detected by microarray. Five of the abnormalities have breakpoints in the low-copy repeats (LCR) in this region and one patient has an atypical rearrangement. Two of the six patients with abnormalities in the region between LCR22 D–E have hearing loss, which has previously been reported only once in association with these abnormalities. We especially note the behavioral/neuropsychiatric problems, including the severity and early onset, in patients with distal 22q11.2 rearrangements. Our patients add to the genotype–phenotype correlations which are still being generated for these chromosomal anomalies.

KW - Distal 22q11.2 microdeletion

KW - Distal 22q11.2 microduplication

KW - Low copy repeats

KW - Neuropsychiatric problems

UR - http://www.scopus.com/inward/record.url?scp=85057059074&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=85057059074&partnerID=8YFLogxK

U2 - 10.1002/mgg3.146

DO - 10.1002/mgg3.146

M3 - Article

C2 - 26247050

AN - SCOPUS:85057059074

SN - 2324-9269

VL - 3

SP - 346

EP - 353

JO - Molecular Genetics and Genomic Medicine

JF - Molecular Genetics and Genomic Medicine

IS - 4

ER -

Behavioral abnormalities are common and severe in patients with distal 22q11.2 microdeletions and microduplications

Abstract

Keywords

ASJC Scopus subject areas

Access to Document

Other files and links

Fingerprint

Cite this