Chromosomal microdeletions: dissecting del22q11 syndrome (Q28206335)

A chromosomal deletion map of human malformations.

Europe PubMed Central

title

Chromosomal microdeletions: dissecting del22q11 syndrome (English)

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author name string

E A Lindsay

series ordinal

1

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language of work or name

English

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publication date

November 2001

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published in

Nature Reviews Genetics

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volume

2

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issue

11

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page(s)

858-68

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cites work

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Velo-cardio-facial syndrome associated with chromosome 22 deletions encompassing the DiGeorge locus

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Deletions and microdeletions of 22q11.2 in velo-cardio-facial syndrome

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Conotruncal anomaly face syndrome is associated with a deletion within chromosome 22q11

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Velo‐cardio‐facial syndrome: Frequency and extent of 22q1l deletions

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Molecular definition of 22q11 deletions in 151 velo-cardio-facial syndrome patients

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Chromosome 22-specific low copy repeats and the 22q11.2 deletion syndrome: genomic organization and deletion endpoint analysis

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Low-copy-number repeat sequences flank the DiGeorge/velo-cardio-facial syndrome loci at 22q11.

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Molecular cytogenetic characterization of the DiGeorge syndrome region using fluorescence in situ hybridization.

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Low-copy repeats mediate the common 3-Mb deletion in patients with velo-cardio-facial syndrome.

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The DNA sequence of human chromosome 22

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A common molecular basis for rearrangement disorders on chromosome 22q11

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Evolutionarily conserved low copy repeats (LCRs) in 22q11 mediate deletions, duplications, translocations, and genomic instability: an update and literature review

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Cat eye syndrome chromosome breakpoint clustering: identification of two intervals also associated with 22q11 deletion syndrome breakpoints

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Der(22) syndrome and velo-cardio-facial syndrome/DiGeorge syndrome share a 1.5-Mb region of overlap on chromosome 22q11

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Clustered 11q23 and 22q11 breakpoints and 3:1 meiotic malsegregation in multiple unrelated t(11;22) families

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A cellular oncogene is translocated to the Philadelphia chromosome in chronic myelocytic leukaemia

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The second case of a t(17;22) in a family with neurofibromatosis type 1: sequence analysis of the breakpoint regions

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A duplicated gene in the breakpoint regions of the 7q11.23 Williams-Beuren syndrome deletion encodes the initiator binding protein TFII-I and BAP-135, a phosphorylation target of BTK

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A physical map, including a BAC/PAC clone contig, of the Williams-Beuren syndrome--deletion region at 7q11.23

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Molecular mechanism for duplication 17p11.2- the homologous recombination reciprocal of the Smith-Magenis microdeletion

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Atypical deletions suggest five 22q11.2 critical regions related to the DiGeorge/velo-cardio-facial syndrome

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A transcription map of the DiGeorge and velo-cardio-facial syndrome minimal critical region on 22q11.

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Cloning and comparative mapping of the DiGeorge syndrome critical region in the mouse.

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Comparative mapping of the human 22q11 chromosomal region and the orthologous region in mice reveals complex changes in gene organization

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Sequence-ready physical map of the mouse chromosome 16 region with conserved synteny to the human velocardiofacial syndrome region on 22q11.2.

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Deletion of 150 kb in the minimal DiGeorge/velocardiofacial syndrome critical region in mouse.

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Normal cardiovascular development in mice deficient for 16 genes in 550 kb of the velocardiofacial/DiGeorge syndrome region

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Catechol-O-methyltransferase-deficient mice exhibit sexually dimorphic changes in catecholamine levels and behavior

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Tbx1 haploinsufficieny in the DiGeorge syndrome region causes aortic arch defects in mice

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TBX1 is responsible for cardiovascular defects in velo-cardio-facial/DiGeorge syndrome

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Genetic factors are major determinants of phenotypic variability in a mouse model of the DiGeorge/del22q11 syndromes

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Expression of the T-box family genes, Tbx1-Tbx5, during early mouse development.

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DiGeorge syndrome phenotype in mice mutant for the T-box gene, Tbx1

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Familial third-fourth pharyngeal pouch syndrome with apparent autosomal dominant transmission

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The endoderm plays an important role in patterning the segmented pharyngeal region in zebrafish (Danio rerio).

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Notochord patterning of the endoderm.

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Alteration of early vascular development after ablation of cranial neural crest

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Pharyngeal arch patterning in the absence of neural crest.

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Cardiovascular anomalies in DiGeorge syndrome and importance of neural crest as a possible pathogenetic factor.

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Pathogenesis of persistent truncus arteriosus and dextroposed aorta in the chick embryo after neural crest ablation

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Dependence of thymus development on derivatives of the neural crest

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Tbx1, a DiGeorge syndrome candidate gene, is regulated by sonic hedgehog during pharyngeal arch development

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Isolation and characterization of a gene from the DiGeorge chromosomal region homologous to the mouse Tbx1 gene

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7 January 2021

Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion

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Large expansion of the ATTCT pentanucleotide repeat in spinocerebellar ataxia type 10.

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7 January 2021

Mice lacking the homologue of the human 22q11.2 gene CRKL phenocopy neurocristopathies of DiGeorge syndrome

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7 January 2021

Interstitial 22q11 microdeletion excluding the ADU breakpoint in a patient with DiGeorge syndrome

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Campomelic dysplasia translocation breakpoints are scattered over 1 Mb proximal to SOX9: evidence for an extended control region

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Cardiac septal and valvular dysmorphogenesis in mice heterozygous for mutations in the homeobox gene Nkx2-5

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A site-directed chromosomal translocation induced in embryonic stem cells by Cre-loxP recombination.

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Interdigitated deletion complexes on mouse chromosome 5 induced by irradiation of embryonic stem cells

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Engineering chromosomal rearrangements in mice

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Detection of an atypical 22q11 deletion that has no overlap with the DiGeorge syndrome critical region

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The gene encoding proline dehydrogenase modulates sensorimotor gating in mice

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Cloning of a balanced translocation breakpoint in the DiGeorge syndrome critical region and isolation of a novel potential adhesion receptor gene in its vicinity.

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Cloning a balanced translocation associated with DiGeorge syndrome and identification of a disrupted candidate gene

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Cloning and comparative mapping of a gene from the commonly deleted region of DiGeorge and Velocardiofacial syndromes conserved in C. elegans

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Localization of the human mitochondrial citrate transporter protein gene to chromosome 22Q11 in the DiGeorge syndrome critical region

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7 January 2021

Isolation of a new clathrin heavy chain gene with muscle-specific expression from the region commonly deleted in velo-cardio-facial syndrome

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7 January 2021

Isolation of a putative transcriptional regulator from the region of 22q11 deleted in DiGeorge syndrome, Shprintzen syndrome and familial congenital heart disease

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7 January 2021

Isolation and characterization of a human gene containing a nuclear localization signal from the critical region for velo-cardio-facial syndrome on 22q11

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7 January 2021

UFD1L, a developmentally expressed ubiquitination gene, is deleted in CATCH 22 syndrome

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7 January 2021

The human homolog of Saccharomyces cerevisiae CDC45

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7 January 2021

Identification of a new human catenin gene family member (ARVCF) from the region deleted in velo-cardio-facial syndrome

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7 January 2021

Alternative expression of platelet glycoprotein Ib(beta) mRNA from an adjacent 5' gene with an imperfect polyadenylation signal sequence

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7 January 2021

Identification of a patient with Bernard-Soulier syndrome and a deletion in the DiGeorge/velo-cardio-facial chromosomal region in 22q11.2.

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7 January 2021

Isolation and characterization of a novel gene containing WD40 repeats from the region deleted in velo-cardio-facial/DiGeorge syndrome on chromosome 22q11.

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7 January 2021

Human mitochondrial thioredoxin reductase cDNA cloning, expression and genomic organization

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7 January 2021

Chromosomal mapping of the human catechol-O-methyltransferase gene to 22q11.1----q11.2

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7 January 2021

The human catechol-O-methyltransferase (COMT) gene maps to band q11.2 of chromosome 22 and shows a frequent RFLP with BglI

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7 January 2021

Isolation of a gene expressed during early embryogenesis from the region of 22q11 commonly deleted in DiGeorge syndrome

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7 January 2021

Isolation of a zinc finger gene consistently deleted in DiGeorge syndrome

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7 January 2021

Isolation and characterization of a novel gene deleted in DiGeorge syndrome

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7 January 2021