Literature DB >> 2729897

Molecular characterization of human X/Y translocations suggests their aetiology through aberrant exchange between homologous sequences on Xp and Yq.

A Ballabio1, R Carrozzo, A Gil, B Gillard, N Affara, M A Ferguson-Smith, N Fraser, I Craig, M Rocchi, G Romeo.   

Abstract

Several DNA sequences from two homologous regions, localized on the distal part of the human X chromosome short arm and on the long arm of the Y chromosome, have been hybridized to DNAs from seven human-rodent hybrids containing human X; Y translocation chromosomes. Molecular characterization of the translocated chromosomes has revealed, in all but one case, transfer of the Y cluster of sequences and complete deletion of the corresponding X-chromosomal sequences. The possible role of X/Y homology in the aetiology of X; Y translocations is proposed.

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Year:  1989        PMID： 2729897     DOI： 10.1111/j.1469-1809.1989.tb01117.x

Source DB:  PubMed          Journal:  Ann Hum Genet        ISSN： 0003-4800            Impact factor:   1.670


  9 in total

1.  Alu-primed polymerase chain reaction for regional assignment of 110 yeast artificial chromosome clones from the human X chromosome: identification of clones associated with a disease locus.

Authors:  D L Nelson; A Ballabio; M F Victoria; M Pieretti; R D Bies; R A Gibbs; J A Maley; A C Chinault; T D Webster; C T Caskey
Journal:  Proc Natl Acad Sci U S A       Date:  1991-07-15       Impact factor: 11.205

Review 2.  Mendelian cytogenetics. Chromosome rearrangements associated with mendelian disorders.

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

3.  Functional disomy of Xp22-pter in three males carrying a portion of Xp translocated to Yq.

Authors:  B Bardoni; G Floridia; S Guioli; G Peverali; C Anichini; M Cisternino; R Casalone; C Danesino; M Fraccaro; O Zuffardi
Journal:  Hum Genet       Date:  1993-05       Impact factor: 4.132

4.  Contiguous gene syndromes due to deletions in the distal short arm of the human X chromosome.

Authors:  A Ballabio; B Bardoni; R Carrozzo; G Andria; D Bick; L Campbell; B Hamel; M A Ferguson-Smith; G Gimelli; M Fraccaro
Journal:  Proc Natl Acad Sci U S A       Date:  1989-12       Impact factor: 11.205

5.  Xp pseudoautosomal gene haploinsufficiency and linear growth deficiency in three girls with chromosome Xp22;Yq11 translocation.

Authors:  M Joseph; E S Cantú; G S Pai; S M Willi; P R Papenhausen; L Weiss
Journal:  J Med Genet       Date:  1996-11       Impact factor: 6.318

6.  Copy number variation plays an important role in clinical epilepsy.

Authors:  Heather Olson; Yiping Shen; Jennifer Avallone; Beth R Sheidley; Rebecca Pinsky; Ann M Bergin; Gerard T Berry; Frank H Duffy; Yaman Eksioglu; David J Harris; Fuki M Hisama; Eugenia Ho; Mira Irons; Christina M Jacobsen; Philip James; Sanjeev Kothare; Omar Khwaja; Jonathan Lipton; Tobias Loddenkemper; Jennifer Markowitz; Kiran Maski; J Thomas Megerian; Edward Neilan; Peter C Raffalli; Michael Robbins; Amy Roberts; Eugene Roe; Caitlin Rollins; Mustafa Sahin; Dean Sarco; Alison Schonwald; Sharon E Smith; Janet Soul; Joan M Stoler; Masanori Takeoka; Wen-Han Tan; Alcy R Torres; Peter Tsai; David K Urion; Laura Weissman; Robert Wolff; Bai-Lin Wu; David T Miller; Annapurna Poduri
Journal:  Ann Neurol       Date:  2014-06-13       Impact factor: 10.422

7.  X/Y translocations resulting from recombination between homologous sequences on Xp and Yq.

Authors:  P H Yen; S P Tsai; S L Wenger; M W Steele; T K Mohandas; L J Shapiro
Journal:  Proc Natl Acad Sci U S A       Date:  1991-10-15       Impact factor: 11.205

8.  Cytogenetic and molecular findings in patients with Turner's syndrome stigmata.

Authors:  T Kuznetzova; A Baranov; N Schwed; T Ivaschenko; P Malet; M Giollant; G A Savitsky; V Baranov
Journal:  J Med Genet       Date:  1995-12       Impact factor: 6.318

9.  Gene conversion between the X chromosome and the male-specific region of the Y chromosome at a translocation hotspot.

Authors:  Zoë H Rosser; Patricia Balaresque; Mark A Jobling
Journal:  Am J Hum Genet       Date:  2009-07-02       Impact factor: 11.025
  9 in total

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