The phenotypic effects of chromosome rearrangement involving bands 7q21.3 and 22q13.3. (Q33679632)

28 July 2017

The phenotypic effects of chromosome rearrangement involving bands 7q21.3 and 22q13.3. (English)

1 reference

28 July 2017

Slavotinek A

1

1 reference

28 July 2017

Maher E

2

1 reference

28 July 2017

Gregory P

3

1 reference

28 July 2017

Rowlandson P

4

1 reference

28 July 2017

Huson SM

5

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28 July 2017

language of work or name

English

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publication date

1 October 1997

1 reference

Journal of Medical Genetics

28 July 2017

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28 July 2017

34

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28 July 2017

10

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28 July 2017

857-861

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Molecular characterization of a 130-kb terminal microdeletion at 22q in a child with mild mental retardation.

28 July 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051097

Split hand/split foot malformation, deafness, and mental retardation with a complex cytogenetic rearrangement involving 7q21.3

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051097

Split hand/split foot anomaly in a family segregating a balanced translocation with breakpoint on 7q22.1.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051097

Fine mapping of the autosomal dominant split hand/split foot locus on chromosome 7, band q21.3-q22.1.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051097

Evidence for locus heterogeneity in human autosomal dominant split hand/split foot malformation

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051097

Clinical, cytogenetic, and molecular characterization of seven patients with deletions of chromosome 22q13.3

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051097

A contiguous gene deletion syndrome at 7q21-q22 and implications for a relationship between isolated ectrodactyly and syndromic ectrodactyly

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051097

The detection of subtelomeric chromosomal rearrangements in idiopathic mental retardation

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051097

Bilateral split hand/foot malformation and inv(7)(p22q21.3)

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051097

Split foot and developmental retardation associated with a deletion of three microsatellite markers in 7q21.2-q22.1.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051097

Partial trisomy for the long arm of chromosome 7. Case report and review

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051097

A familial pericentric inversion of chromosome 22 with a recombinant subject illustrating a 'pure' partial monosomy 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=1051097

Cytogenetic analysis using quantitative, high-sensitivity, fluorescence 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=1051097

Multiple congenital anomaly/mental retardation (MCA/MR) syndrome with Goldenhar complex due to a terminal del(22q)

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051097

Long arm deletion 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=1051097

Interstitial long-arm deletion of chromosome 7 and ectrodactyly

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051097

Ectro-amelia syndrome associated with an interstitial deletion of 7q.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051097

Partial monosomy for chromosome 22 in a patient with del(22)(pter----q13.1::q13.33----qter).

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051097

Bilateral split hand and split foot malformation in a boy with a de novo interstitial deletion of 7q21.3.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051097

Ectrodactyly of hands and feet in a child with a complex translocation including 7q21.2.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051097

Isolation and regional localization of 35 unique anonymous DNA markers for human 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=1051097

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=1051097

Cytogenetic, biochemical, and molecular analyses of a 22q13 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=1051097

Unbalanced karyotype due to adjacent 1 segregation of t(11;22)(q23.3;q13.2)

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051097

Detection of a familial cryptic translocation by 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=1051097

EEC syndrome (ectrodactyly, ectodermal dysplasia and cleft lip/palate) with a balanced reciprocal translocation between 7q11.21 and 9p12 (or 7p11.2 and 9q12) in three generations

30 October 2018

1 reference

12 December 2020

Inverted insertion of chromosome 7q and ectrodactyly

1 reference

12 December 2020

The breakpoints of the EEC syndrome (ectrodactyly, ectodermal dysplasia and cleft lip/palate) confirmed to 7q11.21 and 9p12 by fluorescence in situ hybridization

1 reference

12 December 2020

Human situs determination and chromosome constitution 46,XY,ins(7;8)(q22;q12q24)

1 reference

12 December 2020

EC syndrome in a girl with paracentric inversion (7)(q22.1;q36.3)

1 reference

12 December 2020

[Interstitial deletion of the long arm of chromosome 7 and its clinical correlations]

1 reference

12 December 2020

The phenotype of partial dup(7q) reconsidered: a report of five new cases

1 reference

12 December 2020

Identifiers

DOI

10.1136/JMG.34.10.857

1 reference

28 July 2017

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28 July 2017

1 reference