Literature DB >> 157971

Evidence for a correlation between late replication and autosomal gene inactivation in a familial translocation t(X;21).

J Couturier, B Dutrillaux, P Garber, O Raoul, M F Croquette, J C Fourlinnie, E Maillard.   

Abstract

A familial translocation t(X;21)(q2700;q11) is studied. A girl, trisomic for almost all the chromosome 21, has a mildly abnormal phenotype. A second girl, phenotypically abnormal, is monosomic for the juxtacentromeric region of chromosome 21 only. A comparison of the replication pattern and of the activity of superoxide dismutase (gene located on chromosome 21) shows a clear correlation between late replication, gene inactivation and phenotype expression of chromsome 21.

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Year:  1979        PMID： 157971     DOI： 10.1007/bf00569351

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


  20 in total

1.  Reduced phenotypic effect on partial trisomy 1q in a X/1 translocation.

Authors:  O Zuffardi; L Tiepolo; S Scappaticci; D Francesconi; C Bianchi; D di Natale
Journal:  Ann Genet       Date:  1977-09

2.  Unbalanced X-autosomal translocation with inactivation of the normal X chromosome.

Authors:  M Mikkelsen; G Dahl
Journal:  Cytogenet Cell Genet       Date:  1973

3.  X-autosome translocation in normal mother and effectively 21-monosomic daughter.

Authors:  R L Summitt; P R Martens; R S Wilroy
Journal:  J Pediatr       Date:  1974-04       Impact factor: 4.406

4.  Multiple abnormalities due to possible genetic inactivation in an X-autosome translocation.

Authors:  T H Thelen; D J Abrams; R O Fisch
Journal:  Am J Hum Genet       Date:  1971-07       Impact factor: 11.025

5.  An inherited X-autosome translocation in man.

Authors:  K E Buckton; P A Jacobs; L A Rae; M S Newton; R Sanger
Journal:  Ann Hum Genet       Date:  1971-10       Impact factor: 1.670

6.  A dynamic study in two new cases of X chromosome translocations.

Authors:  M G Mattei; J F Mattei; S Ayme; G Malpuech; F Giraud
Journal:  Hum Genet       Date:  1978-04-24       Impact factor: 4.132

7.  [X-chromosome translocations. Examination based on treatment with BUDR and staining with acridine orange].

Authors:  B Dutrillaux; C Laurent; S Gilgenkrantz; J Frédéric; S Carpentier; J Couturier; J Lejeune
Journal:  Helv Paediatr Acta       Date:  1974

8.  A familial X-22 translocation with an extra X chromosome.

Authors:  M B Jenkins; E Davis; T H Thelen; L Boyd
Journal:  Am J Hum Genet       Date:  1974-11       Impact factor: 11.025

9.  Superoxide dismutase: improved assays and an assay applicable to acrylamide gels.

Authors:  C Beauchamp; I Fridovich
Journal:  Anal Biochem       Date:  1971-11       Impact factor: 3.365

10.  [Four new cases of X-autosome translocation in man (author's transl)].

Authors:  C Laurent; M C Biemont; B Dutrillaux
Journal:  Humangenetik       Date:  1975
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  24 in total

Review 1.  The critical region on the human Xq.

Authors:  E Therman; R Laxova; B Susman
Journal:  Hum Genet       Date:  1990-10       Impact factor: 4.132

2.  Necropsy findings in a fetus with a 46,XY,dic t(X;21)(p11.1;p11.1).

Authors:  N M Smith; H Fernandez; H M Chambers; D F Callen
Journal:  J Med Genet       Date:  1992-07       Impact factor: 6.318

3.  Four chromosomal breakpoints and four new probes mark out a 10-cM region encompassing the fragile-X locus (FRAXA).

Authors:  F Rousseau; A Vincent; S Rivella; D Heitz; C Triboli; E Maestrini; S T Warren; G K Suthers; P Goodfellow; J L Mandel
Journal:  Am J Hum Genet       Date:  1991-01       Impact factor: 11.025

4.  The spreading of X inactivation into autosomal material of an x;autosome translocation: evidence for a difference between autosomal and X-chromosomal DNA.

Authors:  W M White; H F Willard; D L Van Dyke; D J Wolff
Journal:  Am J Hum Genet       Date:  1998-07       Impact factor: 11.025

Review 5.  Role of replication time in the control of tissue-specific gene expression.

Authors:  G P Holmquist
Journal:  Am J Hum Genet       Date:  1987-02       Impact factor: 11.025

6.  Analysis of spreading of inactivation in eight X autosome translocations utilizing the high resolution RBG technique.

Authors:  E A Keitges; C G Palmer
Journal:  Hum Genet       Date:  1986-03       Impact factor: 4.132

7.  Advantages of silver staining in seven rearrangements of acrocentric chromosomes, excluding Robertsonian translocations.

Authors:  M G Mattei; J F Mattei; I Vidal; F Giraud
Journal:  Hum Genet       Date:  1980       Impact factor: 4.132

8.  X-autosome translocations: cytogenetic characteristics and their consequences.

Authors:  M G Mattei; J F Mattei; S Ayme; F Giraud
Journal:  Hum Genet       Date:  1982       Impact factor: 4.132

9.  Translocation (X;6) in a female with Duchenne muscular dystrophy: implications for the localisation of the DMD locus.

Authors:  M Zatz; A M Vianna-Morgante; P Campos; A J Diament
Journal:  J Med Genet       Date:  1981-12       Impact factor: 6.318

10.  X-inactivation patterns in lymphocytes and skin fibroblasts of three cases of X-autosome translocations with abnormal phenotypes.

Authors:  C M Disteche; K Swisshelm; S Forbes; R A Pagon
Journal:  Hum Genet       Date:  1984       Impact factor: 4.132
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