Warning: Undefined array key "mm" in /www/wwwroot/www.ai-bt.com/si.php on line 10 Deprecated: trim(): Passing null to parameter #1 ($string) of type string is deprecated in /www/wwwroot/www.ai-bt.com/si.php on line 10 Partial deletion 21: case report with biochemical studies and review.

Literature DB >> 3430548

Partial deletion 21: case report with biochemical studies and review.

N J Carpenter¹, J S Mayes, B Say, D P Wilson.

Abstract

An unbalanced translocation of a portion of the long arm of chromosome 21 to the short arm of chromosome 4 resulted in a partial deletion of chromosome 21 (pter----q21.05) and in the loss of the telomere of 4p. The phenotype of the child included asymmetrical facies, microcephaly, short stature, hypotonia, and psychomotor retardation associated with frequent infections. Normal SOD-1 activity in red blood cells and fibroblasts and normal cystathionine beta synthase activity in fibroblasts suggest that these gene loci are distal to 21q21.05.

Entities: Disease Gene Species

Mesh：

Substances：

Year: 1987 PMID： 3430548 PMCID： PMC1050352 DOI： 10.1136/jmg.24.11.706

Source DB: PubMed Journal: J Med Genet ISSN： 0022-2593 Impact factor: 6.318

10 in total

1. [Translocation 46,XX, t(15; 21) (q13; q22,1) in the mother of 2 children with partial trisomy 15 and monosomy 21].

Authors: M O Rethoré; B Dutrillaux
Journal: Ann Genet Date: 1973-12

2. Apparent G-monosomy, G-deletion, and incomplete Down's syndrome in a single family.

Authors: R Schmidt; G Mundel; M Rosenblatt; M B Katznelson
Journal: J Med Genet Date: 1972-12 Impact factor: 6.318

3. [Monosomy for the centromeric regions of chromosome 21].

Authors: M O Rethoré; B Dutrillaux; G Baheux; J Gerveaux; J Lejeune
Journal: Exp Cell Res Date: 1972-02 Impact factor: 3.905

4. The G deletion syndromes.

Authors: R J Warren; D L Rimoin
Journal: J Pediatr Date: 1970-10 Impact factor: 4.406

5. [Increase of erythrocyte superoxide dismutase activity in trisomy for chromosome 21].

Authors: P M Sinet; D Allard; J Lejeune; H Jérôme
Journal: C R Acad Hebd Seances Acad Sci D Date: 1974-06-17

6. [Trisomy 21 and superoxide dismutase-1 (IPO-A). Tentative localization of sub-band 21Q22.1].

Authors: P M Sinet; J Couturier; B Dutrillaux; M Poissonnier; O Raoul; M O Rethore; D Allard; J Lejeune; H Jerome
Journal: Exp Cell Res Date: 1976-01 Impact factor: 3.905

7. Assignment of the gene for cystathionine beta-synthase to human chromosome 21 in somatic cell hybrids.

Authors: F Skovby; N Krassikoff; U Francke
Journal: Hum Genet Date: 1984 Impact factor: 4.132

8. Cystathionine beta synthase: gene dosage effect in trisomy 21.

Authors: B Chadefaux; M O Rethoré; O Raoul; I Ceballos; M Poissonnier; S Gilgenkranz; D Allard
Journal: Biochem Biophys Res Commun Date: 1985-04-16 Impact factor: 3.575

9. 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

10. The linkage of genes for the human interferon-induced antiviral protein and indophenol oxidase-B traits to chromosome G-21.

Authors: Y H Tan; J Tischfield; F H Ruddle
Journal: J Exp Med Date: 1973-02-01 Impact factor: 14.307

10 in total

5 in total

Partial deletion 21: case report with biochemical studies and review.

1. [Translocation 46,XX, t(15; 21) (q13; q22,1) in the mother of 2 children with partial trisomy 15 and monosomy 21].

2. Apparent G-monosomy, G-deletion, and incomplete Down's syndrome in a single family.

3. [Monosomy for the centromeric regions of chromosome 21].

4. The G deletion syndromes.

5. [Increase of erythrocyte superoxide dismutase activity in trisomy for chromosome 21].

6. [Trisomy 21 and superoxide dismutase-1 (IPO-A). Tentative localization of sub-band 21Q22.1].

7. Assignment of the gene for cystathionine beta-synthase to human chromosome 21 in somatic cell hybrids.

8. Cystathionine beta synthase: gene dosage effect in trisomy 21.

9. 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.

10. The linkage of genes for the human interferon-induced antiviral protein and indophenol oxidase-B traits to chromosome G-21.

1. A contiguous Not I restriction map of band q22.3 of human chromosome 21.

2. Isolation of chromosome-21-specific DNA probes and their use in the analysis of nondisjunction in Down syndrome.

3. Molecular mapping of 21 features associated with partial monosomy 21: involvement of the APP-SOD1 region.

4. Isolation and characterization of a human telomere.

5. Molecular definition of the smallest region of deletion overlap in the Wolf-Hirschhorn syndrome.