New chromosomal dysmorphic syndromes. 4. Trisomy 12p. (Q52293147)

28 April 2018

title

New chromosomal dysmorphic syndromes. 4. Trisomy 12p. (English)

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author name string

S Stengel-Rutkowski

1

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A Albert

2

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J D Murken

3

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K Zahn-Messow

4

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A Rodewald

5

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M Zankl

6

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H Saule

7

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J Stene

8

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publication date

1 July 1981

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European Journal of Pediatrics

published in

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volume

136

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issue

3

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page(s)

249-262

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Trisomy 12p syndrome Evaluation of a family with a t(12;21)(p12.1;p11) translocation with unbalanced offspring

cites work

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12 December 2020

Syndrome +12p. Case report and review

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12 December 2020

Observations with G bonding of human chromosomes. Reduction of dye concentration in Soerensen buffered solutions is sufficient for demonstrating G bands.

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12 December 2020

Partial trisomy 12p due to t(12;21)pat translocation

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12 December 2020

Trisomy 12p due to familial t(12p-,6q plus) translocation.

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12 December 2020

Cytogenetic study of a recent case of trisomy 12p

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12 December 2020

Reciprocal translocations in man. 3:1 Meiotic disjunction resulting in 47- or 45-chromosome offspring

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12 December 2020

The Cri du Chat syndrome: epidemiology, cytogenetics, and clinical features

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12 December 2020

A new technic of analysis of the human karyotype

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12 December 2020

Double translocation t(7;12),t(2;6) heterozygosity in one family. A contribution to the trisomy 12p syndrome

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12 December 2020

Identification of partial 12 trisomy by quinacrine fluorescence

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12 December 2020

12pter to 12p12.2: possible assignment of human triose phosphate isomerase

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12 December 2020

Partial trisomy 12 and 8 with mosaicism, associated with translocation t(8;12) (p21;q13)

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12 December 2020

Gene dosage effect for human triosephosphate isomerase and glyceraldehyde-3-phosphate dehydrogenase in partial trisomy 12p13 and trisomy 18p

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12 December 2020

Trisomy 12p syndrome: de novo occurrence of mosaic trisomy 12p in a mentally retarded boy

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12 December 2020

Two cases of trisomy 12p due to rcpt(12;21)(p11;p11) inherited through three generations

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12 December 2020

Trisomy 12p due to an adjacent 1 segregation of a maternal reciprocal translocation t(12;18) (p11;q23)

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12 December 2020

A newborn child with karyotype 47,XX,+der(12 (12pter leads to 12q12::9q24 leads to 8qter),t(8;12) (q24;q12) pat

1 reference

12 December 2020

Localization of the gene of the glyceraldehyde 3 phosphate dehydrogenase on the distal segment of the short arm of the chromosome 12

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12 December 2020

Case report: partial trisomy 12p associated with 4p deletion due to paternal t(12p-;4p+) translocation

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12 December 2020

Increase of the LDH-B activity in a boy with 12p trisomy by malsegregation of a maternal translocation t(12;14) (q12;p11)

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Reciprocal translocations

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The 12p trisomy syndrome

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[Descriptive diagrams of human chromosomes (R band analysis and nomenclature according to the conference in Paris in 1971)]

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12 December 2020

Trisomy 12p caused by malsegregation of a paternal translocation t(12;22) (p11;p11)

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12 December 2020

Identifiers

DOI

10.1007/BF00442992

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28 April 2018

release_jvqb5xi4h5b4jeidta2wesvcbi

Fatcat ID

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Fatcat

https://api.fatcat.wiki/v0/release/jvqb5xi4h5b4jeidta2wesvcbi

24 November 2022

mapped directly with Wikidata item

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28 April 2018