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Literature DB >> 2886422

Maternal origin of a de novo balanced t(21q21q) identified by ets-2 polymorphism.

N Créau-Goldberg, A Gegonne, J Delabar, C Cochet, M O Cabanis, D Stehelin, C Turleau, J de Grouchy.

Abstract

Molecular investigations were done in a woman with a de novo balanced t(21q21q) discovered because of the birth of a trisomic 21 baby. Polymorphisms detected with probe ets-2 after Msp I digestion showed that both chromosomes 21 involved in the rearrangement were of maternal origin. The most likely hypothesis is that of a disomic 21 oocyte fertilized by a nullisomic 21 sperm.

Entities: Gene Species

Mesh：

Substances：
Genetic Markers
DNA

Year: 1987 PMID： 2886422 DOI： 10.1007/bf00272452

Source DB: PubMed Journal: Hum Genet ISSN： 0340-6717 Impact factor: 4.132

7 in total

1. Detection of specific sequences among DNA fragments separated by gel electrophoresis.

Authors: E M Southern
Journal: J Mol Biol Date: 1975-11-05 Impact factor: 5.469

2. Efficient transfer of large DNA fragments from agarose gels to diazobenzyloxymethyl-paper and rapid hybridization by using dextran sulfate.

Authors: G M Wahl; M Stern; G R Stark
Journal: Proc Natl Acad Sci U S A Date: 1979-08 Impact factor: 11.205

3. A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity.

Authors: A P Feinberg; B Vogelstein
Journal: Anal Biochem Date: 1983-07-01 Impact factor: 3.365

4. Isolation of polymorphic DNA segments from human chromosome 21.

Authors: P C Watkins; R E Tanzi; K T Gibbons; J V Tricoli; G Landes; R Eddy; T B Shows; J F Gusella
Journal: Nucleic Acids Res Date: 1985-09-11 Impact factor: 16.971

5. Habitual abortion and translocation (22q;22q): unexpected transmission from a mother to her phenotypically normal daughter.

Authors: V G Kirkels; T W Hustinx; J M Scheres
Journal: Clin Genet Date: 1980-12 Impact factor: 4.438

6. Conserved chromosomal positions of dual domains of the ets protooncogene in cats, mice, and humans.

Authors: D K Watson; M J McWilliams-Smith; C Kozak; R Reeves; J Gearhart; M F Nunn; W Nash; J R Fowle; P Duesberg; T S Papas
Journal: Proc Natl Acad Sci U S A Date: 1986-03 Impact factor: 11.205

7. The chromosome constitution of 1000 human spermatozoa.

Authors: R H Martin; W Balkan; K Burns; A W Rademaker; C C Lin; N L Rudd
Journal: Hum Genet Date: 1983 Impact factor: 4.132

7 in total

18 in total

Maternal origin of a de novo balanced t(21q21q) identified by ets-2 polymorphism.

1. Detection of specific sequences among DNA fragments separated by gel electrophoresis.

2. Efficient transfer of large DNA fragments from agarose gels to diazobenzyloxymethyl-paper and rapid hybridization by using dextran sulfate.

3. A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity.

4. Isolation of polymorphic DNA segments from human chromosome 21.

5. Habitual abortion and translocation (22q;22q): unexpected transmission from a mother to her phenotypically normal daughter.

6. Conserved chromosomal positions of dual domains of the ets protooncogene in cats, mice, and humans.

7. The chromosome constitution of 1000 human spermatozoa.

1. Critical role of the D21S55 region on chromosome 21 in the pathogenesis of Down syndrome.

2. Cytogenetic and molecular analysis of a de novo tandem duplication of chromosome 21.

3. A molecular genetic approach to the identification of isochromosomes of chromosome 21.

Review 4. Small supernumerary marker chromosomes and uniparental disomy have a story to tell.

5. Homologous Robertsonian translocation (21q21q) and abortions.

6. A somatic origin of homologous Robertsonian translocations and isochromosomes.

Review 7. Complex and segmental uniparental disomy (UPD): review and lessons from rare chromosomal complements.

8. Isolation of a cosmid clone corresponding to an inv(21) breakpoint of a patient with transient abnormal myelopoiesis.

9. Cytogenetic contribution to uniparental disomy (UPD).

10. Normal phenotype with paternal uniparental isodisomy for chromosome 21.