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Literature DB >> 3036686

Submicroscopic duplication of chromosome 21 and trisomy 21 phenotype (Down syndrome).

J M Delabar, P M Sinet, B Chadefaux, A Nicole, A Gegonne, D Stehelin, F Fridlansky, N Créau-Goldberg, C Turleau, J de Grouchy.

Abstract

A patient with the phenotype of trisomy 21 (Down syndrome) was found to have a normal karyotype in blood lymphocytes and fibroblasts. Assessment of the chromosome 21 markers SOD1, CBS, ETS2, D21S11, and BCEI showed partial trisomy by duplication of a chromosome segment carrying the SOD1, CBS, and ETS2 loci and flanked by the BCEI and D21S11 loci, which are not duplicated. This submicroscopic duplication at the interface of 21q21 and 21q22.1 reduces to about 2000-3000 kb the critical segment the trisomy of which is responsible for the phenotype of trisomy 21.

Entities: Disease Gene Species

Mesh：

Substances：

Year: 1987 PMID： 3036686 DOI： 10.1007/BF00283612

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

28 in total

1. Two Down syndrome patients with rec(21),dupq,inv(21)(p11;q2109) from a familial pericentric inversion.

Authors: C Léonard; M Gautier; P M Sinet; J Selva; J L Huret
Journal: Ann Genet Date: 1986

2. Down Syndrome and acute leukaemia: increased risk may be due to trisomy 21.

Authors: J D Rowley
Journal: Lancet Date: 1981-11-07 Impact factor: 79.321

3. Confirmation of the assignment of the human SODS gene to chromosome 21q22.

Authors: T Philip; J Fraisse; P M Sinet; B Lauras; J M Robert; F Freycon
Journal: Cytogenet Cell Genet Date: 1978

4. Trisomy 21 for the region 21q223: identification by high-resolution R-banding patterns.

Authors: J F Mattei; M G Mattei; M A Baeteman; F Giraud
Journal: Hum Genet Date: 1981 Impact factor: 4.132

5. Rearrangement of chromosome 21 in Alzheimer's disease.

Authors: J M Delabar; Y Lamour; A Gegonne; P Davous; M Roudier; A Nicole; I Ceballos; P Amouyel; D Stehelin; P M Sinet
Journal: Ann Genet Date: 1986

6. Isolation of candidate cDNAs for portions of the Duchenne muscular dystrophy gene.

Authors: A P Monaco; R L Neve; C Colletti-Feener; C J Bertelson; D M Kurnit; L M Kunkel
Journal: Nature Date: 1986 Oct 16-22 Impact factor: 49.962

7. Cloning and screening with nanogram amounts of immunopurified mRNAs: cDNA cloning and chromosomal mapping of cystathionine beta-synthase and the beta subunit of propionyl-CoA carboxylase.

Authors: J P Kraus; C L Williamson; F A Firgaira; T L Yang-Feng; M Münke; U Francke; L E Rosenberg
Journal: Proc Natl Acad Sci U S A Date: 1986-04 Impact factor: 11.205

8. Human cytoplasmic superoxide dismutase cDNA clone: a probe for studying the molecular biology of Down syndrome.

Authors: J Lieman-Hurwitz; N Dafni; V Lavie; Y Groner
Journal: Proc Natl Acad Sci U S A Date: 1982-05 Impact factor: 11.205

9. Leukemia and other cancers, anomalies and infections as causes of death in Down's syndrome in the United States during 1976.

Authors: T Scholl; Z Stein; H Hansen
Journal: Dev Med Child Neurol Date: 1982-12 Impact factor: 5.449

10. Slot blot method for the quantification of DNA sequences and mapping of chromosome rearrangements: application to chromosome 21.

Authors: J L Blouin; Z Rahmani; Z Chettouh; M Prieur; J Fermanian; M Poissonnier; C Leonard; A Nicole; J F Mattei; P M Sinet
Journal: Am J Hum Genet Date: 1990-03 Impact factor: 11.025

10 in total

Submicroscopic duplication of chromosome 21 and trisomy 21 phenotype (Down syndrome).

1. Two Down syndrome patients with rec(21),dupq,inv(21)(p11;q2109) from a familial pericentric inversion.

2. Down Syndrome and acute leukaemia: increased risk may be due to trisomy 21.

3. Confirmation of the assignment of the human SODS gene to chromosome 21q22.

4. Trisomy 21 for the region 21q223: identification by high-resolution R-banding patterns.

5. Rearrangement of chromosome 21 in Alzheimer's disease.

6. Isolation of candidate cDNAs for portions of the Duchenne muscular dystrophy gene.

7. Cloning and screening with nanogram amounts of immunopurified mRNAs: cDNA cloning and chromosomal mapping of cystathionine beta-synthase and the beta subunit of propionyl-CoA carboxylase.

8. Human cytoplasmic superoxide dismutase cDNA clone: a probe for studying the molecular biology of Down syndrome.

9. Leukemia and other cancers, anomalies and infections as causes of death in Down's syndrome in the United States during 1976.

10. A linkage map of three anonymous human DNA fragments and SOD-1 on chromosome 21.

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

2. Human ETS2 gene on chromosome 21 is not rearranged in Alzheimer disease.

3. Familial 4.3 Mb duplication of 21q22 sheds new light on the Down syndrome critical region.

4. Trisomy 21q223 and Down's phenotype correlation evidenced by in situ hybridization.

5. BAC-FISH assays delineate complex chromosomal rearrangements in a case of post-Chernobyl childhood thyroid cancer.

Review 6. Genomic damage and its repair in young and aging brain.

7. Familial 4.3 Mb duplication of 21q22 sheds new light on the Down syndrome critical region.

8. Comparison of the 5' end of the rat and mouse cystathionine beta-synthase genes.

9. Increased SOD1 enzymatic activity and gene modifications in orangutans: evolutionary implications.

10. Slot blot method for the quantification of DNA sequences and mapping of chromosome rearrangements: application to chromosome 21.