(Q33598161)

28 July 2017

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

1 reference

28 July 2017

1 reference

Romain DR

1

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28 July 2017

Goldsmith J

2

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28 July 2017

Cairney H

3

1 reference

28 July 2017

Columbano-Green LM

4

1 reference

28 July 2017

Smythe RH

5

1 reference

28 July 2017

Parfitt RG

6

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28 July 2017

language of work or name

English

0 references

publication date

1 September 1990

1 reference

Journal of Medical Genetics

28 July 2017

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28 July 2017

27

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28 July 2017

588-589

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28 July 2017

9

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Identification by fluorescent microscopy of the abnormal chromosomes associated with the G-deletion syndromes

28 July 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017223

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=1017223

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=1017223

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=1017223

Deleted ring chromosome 22 in a mentally retarded boy.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017223

Digeorge anomaly associated with partial deletion of chromosome 22. Report of a case with X/22 translocation and review of the literature.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017223

The gene encoding the human preproacrosin (ACR) maps to the q13-qter region on 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=1017223

21 June 2018

Identifiers

DOI

10.1136/JMG.27.9.588

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28 July 2017

1 reference

28 July 2017

1 reference