Literature DB >> 16424615

Infertility and marker chromosomes: application of molecular cytogenetic techniques in a case of inv dup(15).

Tania M Vulcani-Freitas1, Vera L Gil-da-Silva-Lopes, Marileila Varella-Garcia, Andréa T Maciel-Guerra.   

Abstract

We report on a phenotypically normal man with infertility, whose 47,XY,+mar karyotype was studied by spectral karyotyping (SKY) and fluorescence in situ hybridization (FISH) using a chromosome-15-specific probe (LSI SNRPN). By these techniques, the marker chromosome was identified as a small inv dup (15). Possible causes for male infertility in this case are discussed.

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Year:  2006        PMID： 16424615     DOI： 10.1007/BF03194605

Source DB:  PubMed          Journal:  J Appl Genet        ISSN： 1234-1983            Impact factor:   3.240


  12 in total

1.  Supernumerary marker chromosomes derived from chromosome 15: analysis of 32 new cases.

Authors:  Katja Eggermann; U A Mau; G Bujdosó; E Koltai; H Engels; R Schubert; T Eggermann; R Raff; G Schwanitz
Journal:  Clin Genet       Date:  2002-07       Impact factor: 4.438

2.  Supernumerary marker 15 chromosomes: a clinical, molecular and FISH approach to diagnosis and prognosis.

Authors:  J A Crolla; J F Harvey; F L Sitch; N R Dennis
Journal:  Hum Genet       Date:  1995-02       Impact factor: 4.132

3.  Infertility associated with two accessory bisatellited chromosomes.

Authors:  M A Martín-Lucas; A Pérez-Castillo; J A Abrisqueta
Journal:  Hum Genet       Date:  1986-06       Impact factor: 4.132

4.  A cytogenetic survey of 11,680 newborn infants.

Authors:  P A Jacobs; M Melville; S Ratcliffe; A J Keay; J Syme
Journal:  Ann Hum Genet       Date:  1974-05       Impact factor: 1.670

Review 5.  Inv dup(15) supernumerary marker chromosomes.

Authors:  T Webb
Journal:  J Med Genet       Date:  1994-08       Impact factor: 6.318

6.  Infertility in carriers of two bisatellited marker chromosomes.

Authors:  M Gentile; F Susca; N Resta; A Stella; A Cascone; G Guanti
Journal:  Clin Genet       Date:  1993-08       Impact factor: 4.438

7.  Refined molecular characterization of the breakpoints in small inv dup(15) chromosomes.

Authors:  B Huang; J A Crolla; S L Christian; M E Wolf-Ledbetter; M E Macha; P N Papenhausen; D H Ledbetter
Journal:  Hum Genet       Date:  1997-01       Impact factor: 4.132

8.  Uniparental disomy explains the occurrence of the Angelman or Prader-Willi syndrome in patients with an additional small inv dup(15) chromosome.

Authors:  W P Robinson; J Wagstaff; F Bernasconi; C Baccichetti; L Artifoni; E Franzoni; L Suslak; L Y Shih; H Aviv; A A Schinzel
Journal:  J Med Genet       Date:  1993-09       Impact factor: 6.318

Review 9.  Inv dup(15): contribution to the clinical definition of phenotype.

Authors:  P Grammatico; C Di Rosa; M Roccella; M Falcolini; A Pelliccia; F Roccella; G Del Porto
Journal:  Clin Genet       Date:  1994-09       Impact factor: 4.438

10.  A cytogenetic survey of 14,069 newborn infants. I. Incidence of chromosome abnormalities.

Authors:  J L Hamerton; N Canning; M Ray; S Smith
Journal:  Clin Genet       Date:  1975-10       Impact factor: 4.438
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