Genetics, mechanism, and pathophysiology of 22q11.2 deletion syndrome

Bernice E. Morrow

doi:10.1016/B978-0-12-816047-3.00017-4

Genetics, mechanism, and pathophysiology of 22q11.2 deletion syndrome

Bernice E. Morrow

Genetics

Research output: Chapter in Book/Report/Conference proceeding › Chapter

Abstract

The human chromosome 22q11.2 region is associated with large blocks of highly homologous low copy repeats interspersed in the region, leading to meiotic chromosome rearrangements. The molecular mechanism for this is by nonallelic homologous recombination resulting in the 22q11.2 deletion syndrome, previously described clinically as DiGeorge syndrome or velocardiofacial syndrome, among other conditions described in Chapter 1. In this chapter, we will focus on understanding the overall genomic architecture of the 22q11.2 region and key genes located within the interval and how additional genes elsewhere in the genome can contribute to their varied phenotypic expression.

Original language	English (US)
Title of host publication	The Chromosome 22q11.2 Deletion Syndrome
Subtitle of host publication	A Multidisciplinary Approach to Diagnosis and Treatment
Publisher	Elsevier
Pages	34-52
Number of pages	19
ISBN (Electronic)	9780128160473
ISBN (Print)	9780128160480
DOIs	https://doi.org/10.1016/B978-0-12-816047-3.00017-4
State	Published - Jan 1 2022

Keywords

22q11.2
CRKL
Cytogenetics
Deletion size
Genetic modifiers
LCR22
Low copy repeats
Mouse models
Nonallelic homologous recombination
TBX1

ASJC Scopus subject areas

Medicine(all)
Biochemistry, Genetics and Molecular Biology(all)

Access to Document

10.1016/B978-0-12-816047-3.00017-4

Cite this

@inbook{d9518e4ff4b34b53856430ea2f93eef9,

title = "Genetics, mechanism, and pathophysiology of 22q11.2 deletion syndrome",

abstract = "The human chromosome 22q11.2 region is associated with large blocks of highly homologous low copy repeats interspersed in the region, leading to meiotic chromosome rearrangements. The molecular mechanism for this is by nonallelic homologous recombination resulting in the 22q11.2 deletion syndrome, previously described clinically as DiGeorge syndrome or velocardiofacial syndrome, among other conditions described in Chapter 1. In this chapter, we will focus on understanding the overall genomic architecture of the 22q11.2 region and key genes located within the interval and how additional genes elsewhere in the genome can contribute to their varied phenotypic expression.",

keywords = "22q11.2, CRKL, Cytogenetics, Deletion size, Genetic modifiers, LCR22, Low copy repeats, Mouse models, Nonallelic homologous recombination, TBX1",

author = "Morrow, {Bernice E.}",

year = "2022",

month = jan,

day = "1",

doi = "10.1016/B978-0-12-816047-3.00017-4",

language = "English (US)",

isbn = "9780128160480",

pages = "34--52",

booktitle = "The Chromosome 22q11.2 Deletion Syndrome",

publisher = "Elsevier",

}

TY - CHAP

T1 - Genetics, mechanism, and pathophysiology of 22q11.2 deletion syndrome

AU - Morrow, Bernice E.

PY - 2022/1/1

Y1 - 2022/1/1

N2 - The human chromosome 22q11.2 region is associated with large blocks of highly homologous low copy repeats interspersed in the region, leading to meiotic chromosome rearrangements. The molecular mechanism for this is by nonallelic homologous recombination resulting in the 22q11.2 deletion syndrome, previously described clinically as DiGeorge syndrome or velocardiofacial syndrome, among other conditions described in Chapter 1. In this chapter, we will focus on understanding the overall genomic architecture of the 22q11.2 region and key genes located within the interval and how additional genes elsewhere in the genome can contribute to their varied phenotypic expression.

AB - The human chromosome 22q11.2 region is associated with large blocks of highly homologous low copy repeats interspersed in the region, leading to meiotic chromosome rearrangements. The molecular mechanism for this is by nonallelic homologous recombination resulting in the 22q11.2 deletion syndrome, previously described clinically as DiGeorge syndrome or velocardiofacial syndrome, among other conditions described in Chapter 1. In this chapter, we will focus on understanding the overall genomic architecture of the 22q11.2 region and key genes located within the interval and how additional genes elsewhere in the genome can contribute to their varied phenotypic expression.

KW - 22q11.2

KW - CRKL

KW - Cytogenetics

KW - Deletion size

KW - Genetic modifiers

KW - LCR22

KW - Low copy repeats

KW - Mouse models

KW - Nonallelic homologous recombination

KW - TBX1

UR - http://www.scopus.com/inward/record.url?scp=85143337266&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=85143337266&partnerID=8YFLogxK

U2 - 10.1016/B978-0-12-816047-3.00017-4

DO - 10.1016/B978-0-12-816047-3.00017-4

M3 - Chapter

AN - SCOPUS:85143337266

SN - 9780128160480

SP - 34

EP - 52

BT - The Chromosome 22q11.2 Deletion Syndrome

PB - Elsevier

ER -

Genetics, mechanism, and pathophysiology of 22q11.2 deletion syndrome

Abstract

Keywords

ASJC Scopus subject areas

Access to Document

Other files and links

Fingerprint

Cite this