(Q33596593)

28 July 2017

Tetrasomy 12p (Pallister-Killian syndrome). (English)

1 reference

28 July 2017

Schinzel A

1

1 reference

PubMed ID

2002482

28 July 2017

language of work or name

English

0 references

publication date

1 February 1991

1 reference

Journal of Medical Genetics

28 July 2017

1 reference

28 July 2017

28

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28 July 2017

122-125

1 reference

28 July 2017

2

1 reference

Mosaic tetrasomy 21 in a male child

28 July 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016781

Isochromosome 12p mosaicism (Pallister mosaic aneuploidy or Pallister-Killian syndrome): report of 11 cases

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016781

Isochromosome 12p mosaicism (Pallister-Killian syndrome): newborn diagnosis by direct bone marrow analysis.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016781

Pallister-Killian syndrome: cytogenetic and molecular studies

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016781

Mosaic tetrasomy 21 in severe mental handicap.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016781

30 October 2018

1 reference

12 December 2020

Molecular analysis of the isochromosome 12P in the Pallister-Killian syndrome. Construction of a mouse-human hybrid cell line containing an i(12p) as the sole human chromosome

1 reference

12 December 2020

Mosaic tetrasomy 21 in a liveborn male infant

1 reference

12 December 2020

The pallister mosaic syndrome

1 reference

12 December 2020

Chromosomal mosaicism in the Killian/Teschler-Nicola syndrome

1 reference

12 December 2020

Prenatal diagnosis of tetrasomy 21.

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12 December 2020

Case of Pallister-Killian syndrome with imperforate anus

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12 December 2020

Risk effect of maternal age in Pallister i(12p) syndrome

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12 December 2020

Prenatal diagnosis of tetrasomy 47,XY, + i(12p) confirmed byin situ hybridization

1 reference

12 December 2020

Mosaic isochromosome 12p

1 reference

12 December 2020

Lethal presentation of mosaic tetrasomy 12p (Pallister-Killian) syndrome

1 reference

12 December 2020

Identifiers

DOI

10.1136/JMG.28.2.122

1 reference

28 July 2017

1 reference

28 July 2017

1 reference

PubMed ID

2002482