Literature DB >> 7228038

SOD-A and chromosome 21. Conflicting findings in a familial translocation (9p24;21q214).

N J Leschot, R M Slater, H Joenje, M J Becker-Bloemkolk, J J de Nef.   

Abstract

A balanced maternal chromosome translocation (9p24;21q214) resulted in two offspring with unbalanced karyotypes. One of these, a girl trisomic for both segment 9pter to 9p24 and segment 21pter to 21q214, was found to have a SOD-A activity not significantly different from those found in a group of five cases with trisomy 21. However, clinical evaluation of this girl revealed no symptoms of the Down syndrome. These findings suggest that, providing the gene dosage theory is correct, the gene for SOD-A is probably localized on chromosome 21 proximal to, or in, band q21.

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Year:  1981        PMID： 7228038     DOI： 10.1007/bf00282029

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


  14 in total

1.  [Partial trisomy 21 (21q21 - 21q22.2)].

Authors:  M Poissonnier; B Saint-Paul; B Dutrillaux; M Chassaigne; P Gruyer; G de Blignières-Strouk
Journal:  Ann Genet       Date:  1976-03

2.  Clinical diagnosis of Down's syndrome.

Authors:  J F Jackson; E R North; J G Thomas
Journal:  Clin Genet       Date:  1976-05       Impact factor: 4.438

3.  Trisomy for the distal half of the short arm of chromosome 9. A variant of the trisomy 9p syndrome.

Authors:  R C Lewandowski; J J Yunis; R Lehrke; J O'Leary; K F Swaiman; O Sanchez
Journal:  Am J Dis Child       Date:  1976-06

4.  Down's syndrome. The possibility of a pathogenetic segment on chromosome no. 21.

Authors:  E Niebuhr
Journal:  Humangenetik       Date:  1974-01-22

5.  Dismutase activity in translocation trisomy.

Authors:  J Kedziora; G Bartosz; W Leyko; D Rozynkowa
Journal:  Lancet       Date:  1979-01       Impact factor: 79.321

6.  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

7.  [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

8.  The characterization of high-resolution G-banded chromosomes of man.

Authors:  J J Yunis; J R Sawyer; D W Ball
Journal:  Chromosoma       Date:  1978-08-14       Impact factor: 4.316

9.  Partial trisomy 21. Further evidence that trisomy of band 21q22 is essential for Down's phenotype.

Authors:  A Hagemeijer; E M Smit
Journal:  Hum Genet       Date:  1977-08-31       Impact factor: 4.132

10.  Dosage effects for superoxide dismutase-1 in nucleated cells aneuploid for chromosome 21.

Authors:  W W Feaster; L W Kwok; C J Epstein
Journal:  Am J Hum Genet       Date:  1977-11       Impact factor: 11.025
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  7 in total

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

Authors:  M C Pellissier; M Laffage; N Philip; E Passage; M G Mattei; J F Mattei
Journal:  Hum Genet       Date:  1988-11       Impact factor: 4.132

2.  Maternally transmitted extra ring (21) chromosome in a boy with Down's syndrome.

Authors:  T Matsubara; Y Nakagome; N Ogasawara; S Oka; T Yokochi
Journal:  Hum Genet       Date:  1982       Impact factor: 4.132

3.  Moderate Down's syndrome in three siblings having partial trisomy 21q22.2 to qter and therefore no SOD-1 excess.

Authors:  M Habedank; A Rodewald
Journal:  Hum Genet       Date:  1982       Impact factor: 4.132

4.  A case of 21q-syndrome with half normal SOD-1 activity.

Authors:  K Yoshimitsu; S Hatano; Y Kobayashi; Y Takeoka; M Hayashidani; K Ueda; K Nomura; K Ohama; T Usui
Journal:  Hum Genet       Date:  1983       Impact factor: 4.132

5.  Normal superoxide dismutase-1 (SOD-1) activity with deletion of chromosome band 21q21 supports localization of SOD-1 locus to 21q22.

Authors:  E A Wulfsberg; R E Carrel; I J Klisak; T J O'Brien; J A Sykes; R S Sparkes
Journal:  Hum Genet       Date:  1983       Impact factor: 4.132

6.  Down syndrome with duplication of a region of chromosome 21 containing the CuZn superoxide dismutase gene without detectable karyotypic abnormality.

Authors:  J L Huret; J M Delabar; F Marlhens; A Aurias; A Nicole; M Berthier; J Tanzer; P M Sinet
Journal:  Hum Genet       Date:  1987-03       Impact factor: 4.132

7.  The gene for cystathionine beta-synthase (CBS) maps to the subtelomeric region on human chromosome 21q and to proximal mouse chromosome 17.

Authors:  M Münke; J P Kraus; T Ohura; U Francke
Journal:  Am J Hum Genet       Date:  1988-04       Impact factor: 11.025
  7 in total

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