Literature DB >> 50265

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

C Laurent, M C Biemont, B Dutrillaux.   

Abstract

Four new cases of translocations involving the X chromosome are reported. The first is a balanced t(1;X) observed in an abnormal girl. In most of the cells, the normal X is inactivated. The second case is a woman with oligomenorrhea, who has had two spontaneous abortions. She carries an umbalanced t(X-autosome). In all cells, the abnormal X, including the autosomal segment, is inactivated. The third and fourth cases are a mother, and her son. The mother has oligomenorrhea, carries a t(X,X), and has a karyotype of 46,X,+der t(X;X) and that of her son is 47,XY,+der t(X;X) and shows behavioral abnormalities. The abnormal X chromosome is inactivated in all the cells analyzed.

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Year:  1975        PMID: 50265     DOI: 10.1007/bf00280283

Source DB:  PubMed          Journal:  Humangenetik        ISSN: 0018-7348


  15 in total

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

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

2.  Banding patterns and autoradiographic studies of cells with an X-autosome translocation.

Authors:  M Lucas; A Smithies
Journal:  Ann Hum Genet       Date:  1973-07       Impact factor: 1.670

3.  [A new technic of analysis of the human karyotype].

Authors:  B Dutrillaux; J Lejeune
Journal:  C R Acad Hebd Seances Acad Sci D       Date:  1971-05-17

4.  [Specific fluorescence of R and G bands in human chromosomes].

Authors:  J Couturier; B Dutrillaux; J Lejeune
Journal:  C R Acad Hebd Seances Acad Sci D       Date:  1973-01-15

5.  Two human X-autosome translocations identified by autoradiography and fluorescence.

Authors:  M M Cohen; C C Lin; V Sybert; E J Orecchio
Journal:  Am J Hum Genet       Date:  1972-09       Impact factor: 11.025

6.  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

7.  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

8.  [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

9.  [Sterility and familial t (1q-;Xq+) translocation].

Authors:  B Dutrillaux; J Couturier; J Rotman; J Salat; J Lejeune
Journal:  C R Acad Hebd Seances Acad Sci D       Date:  1972-06-12

10.  X inactivation in man: a woman with t(Xq--;12q+).

Authors:  G E Sarto; E Therman; K Patau
Journal:  Am J Hum Genet       Date:  1973-05       Impact factor: 11.025

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  25 in total

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

Authors:  J Couturier; B Dutrillaux; P Garber; O Raoul; M F Croquette; J C Fourlinnie; E Maillard
Journal:  Hum Genet       Date:  1979-07-18       Impact factor: 4.132

2.  Aspermia, associated with a presumably balanced X/autosomal translocation karyotype 46, Y, t (X;5) (q28;q11).

Authors:  S Stengel-Rutkowski; H Zankl; A Rodewald; S Scharrer; J P Chaudhuri; K D Zang
Journal:  Hum Genet       Date:  1976-01-28       Impact factor: 4.132

3.  Analysis of deoxyribonucleic acid replication in human X chromosomes by fluorescence microscopy.

Authors:  H F Willard; S A Latt
Journal:  Am J Hum Genet       Date:  1976-05       Impact factor: 11.025

4.  BrdU-33258 Hoechst analysis of DNA replication in human lymphocytes with supernumerary or structurally abnormal X chromosomes.

Authors:  S A Latt; H F Willard; P S Gerald
Journal:  Chromosoma       Date:  1976-08-17       Impact factor: 4.316

5.  A girl with mosaicism for a dicentric X chromosome (45,X/46,X,dic(X) (Xqter to p22::p22 to qter)).

Authors:  J F Mattei; H Taramasco; M G Mattei; C Lucas; L Aubert; F Giraud
Journal:  Hum Genet       Date:  1977-08-31       Impact factor: 4.132

6.  A girl with an end-to-end fusion of two X'S.

Authors:  C Stoll; C Lausecker; A Pennerath
Journal:  Eur J Pediatr       Date:  1979-05-18       Impact factor: 3.183

7.  Women heterozygous for deficiency of the (p21 leads to pter) region of the X chromosome are fertile.

Authors:  M Fraccaro; P Maraschio; F Pasquali; S Scappaticci
Journal:  Hum Genet       Date:  1977-12-23       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

Review 10.  Determining the role of skewed X-chromosome inactivation in developing muscle symptoms in carriers of Duchenne muscular dystrophy.

Authors:  Emanuela Viggiano; Manuela Ergoli; Esther Picillo; Luisa Politano
Journal:  Hum Genet       Date:  2016-04-21       Impact factor: 4.132

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