(Q33594878)

28 July 2017

1 reference

title

Mosaicism for duplication 12q (12q13-->q24.2) in a dysmorphic male infant (English)

1 reference

28 July 2017

Dixon JW

1

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28 July 2017

Costa T

series ordinal

2

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28 July 2017

Teshima IE

series ordinal

3

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28 July 2017

language of work or name

English

0 references

publication date

1 January 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

1

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28 July 2017

page(s)

70-72

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Partial trisomy 12q: report of a case and review

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=1016239

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016239

Partial trisomy 12q: a clinically recognisable syndrome. Genetic risks associated with translocations of chromosome 12q.

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016239

Partial trisomy 12 in a mentally retarded boy and translocation (12;21) in his mother

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016239

Partial trisomy 12q: clinical and cytogenetic observations.

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016239

A BrdU-requiring fragile site on chromosome 12.

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016239

Karyotyping urine sediment cells confirms trisomy 12 mosaicism detected at amniocentesis

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016239

Asymmetry in chromosome pairing: a major factor in de novo mutation and the production of genetic disease in man

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016239

Twinning and mitotic crossing-over: some possibilities and their implications

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016239

First report of mosaic trisomy 12 in a liveborn individual.

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016239

Partial trisomy 12q associated with a familial translocation

30 October 2018

1 reference

12 December 2020

Duplication 12q mosaicism in two unrelated patients with a similar syndrome

1 reference

12 December 2020

Translocations involving chromosome 12. I. A report of a 12,21 translocation in a woman with recurrent abortions, and a study of the breakpoints and modes of ascertainment of translocations involving chromosome 12

1 reference

12 December 2020

Malformation syndrome of duplication 12q24.1→qter

1 reference

12 December 2020

Duplication (12q) syndrome in female cousins, resulting from maternal (11;12) (p15.5;q24.2) translocations

1 reference

12 December 2020

Confined chorionic mosaicism in prenatal diagnosis

1 reference

12 December 2020

Segregation after mitotic crossing-over in isodicentric X chromosomes

1 reference

12 December 2020

Trisomy 12 mosaicism in amniocytes and dysmorphic child despite normal chromosomes in fetal blood sample

1 reference

12 December 2020

Trisomy 12 mosaicism in an infertile man

1 reference

12 December 2020

Identifiers

DOI

10.1136/JMG.30.1.70

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28 July 2017

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28 July 2017

1 reference