(Q34146317)

31 July 2017

title

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

1 reference

31 July 2017

T H Shaikh

1

1 reference

31 July 2017

M L Budarf

2

1 reference

31 July 2017

L Celle

3

1 reference

31 July 2017

E H Zackai

4

1 reference

31 July 2017

B S Emanuel

5

1 reference

31 July 2017

language of work or name

English

0 references

publication date

1 December 1999

1 reference

American Journal of Human Genetics

31 July 2017

published in

1 reference

31 July 2017

volume

65

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31 July 2017

issue

6

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31 July 2017

page(s)

1595-1607

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A 22q11.2 deletion that excludes UFD1L and CDC45L in a patient with conotruncal and craniofacial defects

31 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=1288370

Large genomic duplicons map to sites of instability in the Prader-Willi/Angelman syndrome chromosome region (15q11-q13).

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288370

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288370

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288370

Localization of Jacobsen syndrome breakpoints on a 40-Mb physical map of distal chromosome 11q

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288370

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288370

Homologous recombination of a flanking repeat gene cluster is a mechanism for a common contiguous gene deletion syndrome

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288370

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288370

Progress in the autosomal segmental aneusomy syndromes (SASs): single or multi-locus disorders?

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288370

The organization of the gamma-glutamyl transferase genes and other low copy repeats in human chromosome 22q11.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288370

Disruption of the clathrin heavy chain-like gene (CLTCL) associated with features of DGS/VCFS: a balanced (21;22)(p12;q11) translocation.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288370

Der(22)t(11;22) resulting from a paternal de novo translocation, adjacent 1 segregation, and maternal heterodisomy of chromosome 22.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288370

An STS content map of human chromosome 11: localization of 910 YAC clones and 109 islands

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288370

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288370

Molecular characterization of the marker chromosome associated with cat eye syndrome

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288370

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288370

The 1993-94 Généthon human genetic linkage map

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288370

Site-specific reciprocal translocation, t(11;22) (q23;q11), in several unrelated families with 3:1 meiotic disjunction

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288370

Chromosome study of Ewing's sarcoma (ES) cell lines. Consistency of a reciprocal translocation t(11;22)(q24;q12).

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288370

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288370

Delineation of individual human chromosomes in metaphase and interphase cells by in situ suppression hybridization using recombinant DNA libraries

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288370

Comparative mapping of the constitutional and tumor-associated 11;22 translocations

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288370

Mapping of human chromosome Xq28 by two-color fluorescence in situ hybridization of DNA sequences to interphase cell nuclei

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288370

Parameters of the human genome

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288370

The unbalanced offspring of the male carriers of the 11q;22q translocation: nondisjunction at meiosis II in a balanced spermatocyte.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288370

11Q;22Q translocation: Third case of imbalance not due to 3:1 nondisjunction in first meiosis

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288370

Dinucleotide repeat polymorphism at the D22S264 locus

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288370

Reciprocal translocations in man. 3:1 Meiotic disjunction resulting in 47- or 45-chromosome offspring

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288370

Molecular studies of an ependymoma-associated constitutional t(1;22)(p22;q11.2).

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288370

A deletion in chromosome 22 can cause DiGeorge syndrome

28 October 2018

1 reference

https://pubmed.ncbi.nlm.nih.gov/10577913

12 December 2020

Analysis of human sperm chromosome complements from a male heterozygous for a reciprocal translocation t(11;22)(q23;q11)

1 reference

https://pubmed.ncbi.nlm.nih.gov/10577913

12 December 2020

Characterization of the supernumerary chromosome in cat eye syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/10577913

12 December 2020

Congenital heart disease in supernumerary der(22),t(11;22) syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/10577913

12 December 2020

Not all chromosome imbalance resulting from the 11q;22q translocation is due to 3:1 segregation in first meiosis

1 reference

https://pubmed.ncbi.nlm.nih.gov/10577913

12 December 2020

The translocation 11q;22q: a novel unbalanced karyotype

1 reference

https://pubmed.ncbi.nlm.nih.gov/10577913

12 December 2020

DNA of Saccharomyces cerevisiae

1 reference

https://pubmed.ncbi.nlm.nih.gov/10577913

12 December 2020

Unusual segregation for 11q;22q parental translocation in a triplet pregnancy: prenatal diagnosis in chorionic villi and amniotic fluid

1 reference

https://pubmed.ncbi.nlm.nih.gov/10577913

12 December 2020

A Panel of Sequence Tagged Sites for Chromosome Band 11q23

1 reference

https://pubmed.ncbi.nlm.nih.gov/10577913

12 December 2020

Two autosomal dominant neuropathies result from reciprocal DNA duplication/deletion of a region on chromosome 17

1 reference

https://pubmed.ncbi.nlm.nih.gov/10577913

12 December 2020

A yeast artificial chromosome contig and NotI restriction map that spans the tumor suppressor gene(s) locus, 11q22.2-q23.3.

1 reference

https://pubmed.ncbi.nlm.nih.gov/10577913

12 December 2020

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/10577913

12 December 2020

PCR assay for screening patients at risk for 22q11.2 deletion

1 reference

https://pubmed.ncbi.nlm.nih.gov/10577913

12 December 2020

The 11q;22q translocation: a European collaborative analysis of 43 cases

1 reference

https://pubmed.ncbi.nlm.nih.gov/10577913

12 December 2020

Translocation involving chromosome 22 in Ewing's sarcoma. A cytogenetic study of four fresh tumors

1 reference

https://pubmed.ncbi.nlm.nih.gov/10577913

12 December 2020

Identifiers

DOI

10.1086/302666

1 reference

31 July 2017

1 reference

31 July 2017

1 reference