Literature DB >> 2307456

Unusual X chromosome inactivation in a mentally retarded girl with an interstitial deletion Xq27: implications for the fragile X syndrome.

M Schmidt1, A Certoma, D Du Sart, P Kalitsis, M Leversha, K Fowler, L Sheffield, I Jack, D M Danks.   

Abstract

A de novo interstitial deletion (X)(q27.1q27.3), between the loci DXS 105 and F8, has been found in a mentally retarded female. The deleted X chromosome is preferentially early replicating in fibroblasts, B cells and T cells, suggesting that the missing region plays a role in inactivation of the X chromosome. None of the available DNA probes except DXS 98 maps to the deleted region of about 10,000 kb. The locus FRAXA is either included in the deletion, or located close to the distal break point.

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Year:  1990        PMID： 2307456     DOI： 10.1007/bf00196232

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


  38 in total

1.  Isolation and characterization of human random cDNA clones homologous to DNA from the X chromosome.

Authors:  I Balazs; M Purrello; D M Kurnit; K H Grzeschik; M Siniscalco
Journal:  Somat Cell Mol Genet       Date:  1984-07

2.  Nonrandom X chromosome inactivation in B cells from carriers of X chromosome-linked severe combined immunodeficiency.

Authors:  M E Conley; A Lavoie; C Briggs; P Brown; C Guerra; J M Puck
Journal:  Proc Natl Acad Sci U S A       Date:  1988-05       Impact factor: 11.205

3.  Genetic mapping of the Xq27-q28 region: new RFLP markers useful for diagnostic applications in fragile-X and hemophilia-B families.

Authors:  B Arveiler; I Oberlé; A Vincent; M H Hofker; P L Pearson; J L Mandel
Journal:  Am J Hum Genet       Date:  1988-02       Impact factor: 11.025

4.  Evidence for a relationship between DNA methylation and DNA replication from studies of the 5-azacytidine-reactivated allocyclic X chromosome.

Authors:  M Schmidt; S F Wolf; B R Migeon
Journal:  Exp Cell Res       Date:  1985-06       Impact factor: 3.905

5.  Tissue-specific heterogeneity in DNA replication patterns of human X chromosomes.

Authors:  H F Willard
Journal:  Chromosoma       Date:  1977-04-27       Impact factor: 4.316

6.  Regional localization on the human X of DNA segments cloned from flow sorted chromosomes.

Authors:  L M Kunkel; U Tantravahi; M Eisenhard; S A Latt
Journal:  Nucleic Acids Res       Date:  1982-03-11       Impact factor: 16.971

7.  Clinical and cytogenetic aspects of X-chromosome deletions.

Authors:  B Goldman; P E Polani; M G Daker; R R Angell
Journal:  Clin Genet       Date:  1982-01       Impact factor: 4.438

8.  Cytogenetic and molecular studies on a recombinant human X chromosome: implications for the spreading of X chromosome inactivation.

Authors:  T Mohandas; R L Geller; P H Yen; J Rosendorff; R Bernstein; A Yoshida; L J Shapiro
Journal:  Proc Natl Acad Sci U S A       Date:  1987-07       Impact factor: 11.205

9.  Mammalian X chromosome inactivation: testing the hypothesis of transcriptional control.

Authors:  J A Graves; S M Gartler
Journal:  Somat Cell Mol Genet       Date:  1986-05

10.  Cloning of a representative genomic library of the human X chromosome after sorting by flow cytometry.

Authors:  K E Davies; B D Young; R G Elles; M E Hill; R Williamson
Journal:  Nature       Date:  1981-10-01       Impact factor: 49.962
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  16 in total

1.  Duplications of the X chromosome in males: evidence that most parts of the X chromosome can be active in two copies.

Authors:  M Schmidt; D Du Sart; P Kalitsis; M Leversha; S Dale; L Sheffield; D Toniolo
Journal:  Hum Genet       Date:  1991-03       Impact factor: 4.132

2.  New distal marker closely linked to the fragile X locus.

Authors:  T J Hulsebos; B A Oostra; S Broersen; A Smits; B A van Oost; A Westerveld
Journal:  Hum Genet       Date:  1991-07       Impact factor: 4.132

3.  Characterization of a deletion at Xq27-q28 associated with unbalanced inactivation of the nonmutant X chromosome.

Authors:  J T Clarke; P J Wilson; C P Morris; J J Hopwood; R I Richards; G R Sutherland; P N Ray
Journal:  Am J Hum Genet       Date:  1992-08       Impact factor: 11.025

4.  Heritability of X chromosome--inactivation phenotype in a large family.

Authors:  A K Naumova; R M Plenge; L M Bird; M Leppert; K Morgan; H F Willard; C Sapienza
Journal:  Am J Hum Genet       Date:  1996-06       Impact factor: 11.025

5.  DXS539, a polymorphic DNA marker proximal of the fragile-X gene.

Authors:  J C Dreesen; J A van den Hurk; A P Smits; A M van den Ouweland; P W Markslag; B A van Oost
Journal:  Hum Genet       Date:  1993-03       Impact factor: 4.132

6.  The postulated X-inactivation center at Xq27 is most reasonably explained by ascertainment bias: heterozygous expression of recessive mutations is a powerful means of detecting unbalanced X inactivation.

Authors:  B R Migeon
Journal:  Am J Hum Genet       Date:  1993-02       Impact factor: 11.025

Review 7.  Mendelian cytogenetics. Chromosome rearrangements associated with mendelian disorders.

Authors:  N Tommerup
Journal:  J Med Genet       Date:  1993-09       Impact factor: 6.318

8.  Microdeletions including FMR1 in three female patients with intellectual disability - further delineation of the phenotype and expression studies.

Authors:  A M Zink; E Wohlleber; H Engels; O K Rødningen; K Ravn; S Heilmann; J Rehnitz; N Katzorke; C Kraus; S Blichfeldt; P Hoffmann; H Reutter; F F Brockschmidt; M Kreiß-Nachtsheim; P H Vogt; T E Prescott; Z Tümer; J A Lee
Journal:  Mol Syndromol       Date:  2014-01-29

Review 9.  Mosaic FMR1 deletion causes fragile X syndrome and can lead to molecular misdiagnosis: a case report and review of the literature.

Authors:  Bradford Coffee; Morna Ikeda; Dejan B Budimirovic; Lawrence N Hjelm; Walter E Kaufmann; Stephen T Warren
Journal:  Am J Med Genet A       Date:  2008-05-15       Impact factor: 2.802

10.  Myotubular myopathy in a girl with a deletion at Xq27-q28 and unbalanced X inactivation assigns the MTM1 gene to a 600-kb region.

Authors:  N Dahl; L J Hu; M Chery; M Fardeau; S Gilgenkrantz; A Nivelon-Chevallier; I Sidaner-Noisette; F Mugneret; J B Gouyon; A Gal
Journal:  Am J Hum Genet       Date:  1995-05       Impact factor: 11.025
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