Literature DB >> 2973430

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

M C Pellissier1, M Laffage, N Philip, E Passage, M G Mattei, J F Mattei.   

Abstract

Two cases of trisomy 21q223 with the Down's phenotype were analysed by in situ hybridization with specific probes previously located in the sub-bands 21q221 (SOD-A) and 21q223 (BCEI and COL6A). These studies give evidence that the clinical picture of Down's syndrome is at least to a great extent correlated with trisomy for the 21q223 band.

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Year:  1988        PMID： 2973430     DOI： 10.1007/bf01790097

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


  27 in total

1.  Partial trisomies of chromosome 21 in man. Two new observations due to translocations 19;21 and 4;21.

Authors:  R A Pfeiffer; E K Kessel; K H Soer
Journal:  Clin Genet       Date:  1977-03       Impact factor: 4.438

2.  [Partial trisomy of chromosome 21 by maternal translocation t(15;21) (q26.2; q21)].

Authors:  O Raoul; S Carpentier; B Dutrillaux; R Mallet; J Lejeune
Journal:  Ann Genet       Date:  1976-09

3.  A boy with Down's syndrome having recombinant chromosome 21 but no SOD-1 excess.

Authors:  K Miyazaki; T Yamanaka; N Ogasawara
Journal:  Clin Genet       Date:  1987-12       Impact factor: 4.438

4.  Regular trisomy 21 not accompanied by increased copper-zinc superoxide dismutase (SOD1) activity.

Authors:  A Jeziorowska; L Jakubowski; J Lach; B Kałuzewski
Journal:  Clin Genet       Date:  1988-01       Impact factor: 4.438

5.  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

6.  Dismutase activity in translocation trisomy.

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

7.  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

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

Authors:  N J Leschot; R M Slater; H Joenje; M J Becker-Bloemkolk; J J de Nef
Journal:  Hum Genet       Date:  1981       Impact factor: 4.132

9.  Familial Down syndrome due to t(10;21) translocation: evidence that the Down phenotype is related to trisomy of a specific segment of chromosome 21.

Authors:  J D Williams; R L Summitt; P R Martens; R A Kimbrell
Journal:  Am J Hum Genet       Date:  1975-07       Impact factor: 11.025

10.  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
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  1 in total

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

Authors:  Z Rahmani; J L Blouin; N Creau-Goldberg; P C Watkins; J F Mattei; M Poissonnier; M Prieur; Z Chettouh; A Nicole; A Aurias
Journal:  Proc Natl Acad Sci U S A       Date:  1989-08       Impact factor: 11.205
  1 in total

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