(Q33595849)

28 July 2017

title

Prevalence of 22q11 microdeletions in DiGeorge and velocardiofacial syndromes: implications for genetic counselling and prenatal diagnosis (English)

1 reference

28 July 2017

D A Driscoll

1

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28 July 2017

J Salvin

2

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28 July 2017

B Sellinger

3

1 reference

28 July 2017

M L Budarf

4

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28 July 2017

D M McDonald-McGinn

5

1 reference

28 July 2017

E H Zackai

6

1 reference

28 July 2017

B S Emanuel

7

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28 July 2017

language of work or name

English

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publication date

1 October 1993

1 reference

Journal of Medical Genetics

28 July 2017

published in

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28 July 2017

volume

30

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28 July 2017

issue

10

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28 July 2017

page(s)

813-817

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Microdeletions of chromosomal region 22q11 in patients with congenital conotruncal cardiac defects

28 July 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016560

The velo-cardio-facial syndrome: a clinical and genetic analysis

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016560

The association of the DiGeorge anomalad with partial monosomy of chromosome 22.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016560

Male-to-male transmission of the velo-cardio-facial syndrome: a case report and review of 60 cases

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016560

Features of di George syndrome in a child with 45,XX,-3,-22,+der(3),t(3;22)(p25;q11).

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016560

Cytogenetic findings in a prospective series of patients with DiGeorge anomaly

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016560

The DiGeorge anomaly as a developmental field defect

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016560

Contiguous gene syndromes: a component of recognizable syndromes

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016560

Molecular studies of DiGeorge syndrome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016560

Adjacent-2 disjunction of a maternal t(9;22) leading to duplication 9pter----q22 and deficiency of 22pter----q11.2.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016560

DiGeorge anomaly associated with 10p deletion

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016560

DiGeorge anomaly in an infant with deletion of chromosome 22 and dup(9p) due to adjacent type II disjunction

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016560

Detection of deletions and cryptic translocations in Miller-Dieker syndrome by in situ hybridization

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016560

Molecular confirmation of Wolf-Hirschhorn syndrome with a subtle translocation of chromosome 4

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016560

A submicroscopic translocation, t(4;10), responsible for recurrent Wolf-Hirschhorn syndrome identified by allele loss and fluorescent in situ hybridisation.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016560

Molecular genetic study of the frequency of monosomy 22q11 in DiGeorge syndrome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016560

A prospective cytogenetic study of 36 cases of DiGeorge syndrome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016560

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016560

A genetic etiology for DiGeorge syndrome: consistent deletions and microdeletions of 22q11.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016560

A new syndrome involving cleft palate, cardiac anomalies, typical facies, and learning disabilities: velo-cardio-facial syndrome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016560

Confirmation that the velo-cardio-facial syndrome is associated with haplo-insufficiency of genes at chromosome 22q11.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016560

Partial monosomy 22pter leads to q11 in a newborn with the clinical features of trisomy 13 syndrome

30 October 2018

1 reference

https://pubmed.ncbi.nlm.nih.gov/8230155

12 December 2020

A deletion in chromosome 22 can cause DiGeorge syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/8230155

12 December 2020

Familial DiGeorge syndrome and associated partial monosomy of chromosome 22

1 reference

https://pubmed.ncbi.nlm.nih.gov/8230155

12 December 2020

Thymus deficiency in an infant with a chromosome t(18;22)(q12.2;p11.2)pat rearrangement

1 reference

https://pubmed.ncbi.nlm.nih.gov/8230155

12 December 2020

DiGeorge syndrome and 22q11 rearrangements

1 reference

https://pubmed.ncbi.nlm.nih.gov/8230155

12 December 2020

Antenatal diagnosis of DiGeorge syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/8230155

12 December 2020

Identifiers

DOI

10.1136/JMG.30.10.813

1 reference

28 July 2017

1 reference

28 July 2017

1 reference