(Q33674650)

28 July 2017

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

1 reference

28 July 2017

Faed MJ

1

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28 July 2017

Robertson J

2

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28 July 2017

Beck JS

3

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28 July 2017

Cater JI

4

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28 July 2017

Bose B

5

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28 July 2017

Madlom MM

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28 July 2017

language of work or name

English

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publication date

1 April 1987

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Journal of Medical Genetics

28 July 2017

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28 July 2017

24

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28 July 2017

225-227

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28 July 2017

4

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

28 July 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050000

A second patient with partial deletion of the short arm of chromosome 3: karyotype 46,XY,del(3)(p25)

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050000

A child with partial trisomy of chromosome 17 and partial monosomy of chromosome 3: 46,XY,der(3),t(3;17)(p25;q23)

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050000

Chromosome 3 duplication q21 leads to qter deletion p25 leads to pter syndrome in children of carriers of a pericentric inversion inv(3) (p25q21)

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050000

The spectrum of the DiGeorge syndrome

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050000

Congenital Cardiovascular Disease and Anomalies of the Third and Fourth Pharyngeal Pouch

14 July 2018

1 reference

PubMed

12 December 2020

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12 December 2020

A deletion in chromosome 22 can cause DiGeorge syndrome

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PubMed

12 December 2020

Familial DiGeorge syndrome and associated partial monosomy of chromosome 22

1 reference

PubMed

12 December 2020

Identifiers

0 references

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28 July 2017

1 reference