Infertility and marker chromosomes: Application of molecular cytogenetic techniques in a case of inv dupp.89-91,fig.,ref.

• Autorzy: Vulcani-Freitas T M , Gil-da-Silva-Lopes V L , Varella-Garcia M , Maciel-Guerra A T
• Języki publikacji: EN

Abstrakty

EN

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.

Słowa kluczowe

EN

male interfility; chromosome; marker chromosome; cytogenetics; fluorescence in situ hybridization; karyotype

• Wydawca: -
• Czasopismo: Journal of Applied Genetics
• Rocznik: 2006
• Tom: 47
• Numer: 1
• Opis fizyczny: p.89-91,fig.,ref.

Twórcy

autor

Vulcani-Freitas T M

• Department of Medical Genetics, Faculty of Medical Sciences, School of Medicine State University of Campinas, CP 6111 CEP 13083-970 Campinas, SP-Brazil

autor

Gil-da-Silva-Lopes V L

• Department of Medical Genetics, Faculty of Medical Sciences, School of Medicine State University of Campinas, CP 6111 CEP 13083-970 Campinas, SP-Brazil

autor

Varella-Garcia M

• University of Colorado Cancer Center and Health Sciences Center, Denver, Colorado, USA

autor

Maciel-Guerra A T

• Department of Medical Genetics, Faculty of Medical Sciences, School of Medicine State University of Campinas, CP 6111 CEP 13083-970 Campinas, SP-Brazil

Bibliografia

• Crolla JA, Harvey JF, Sitch FL, Dennis NR, 1995. Supernumerary marker 15 chromosomes: a clinical, molecular and FISH approach to diagnosis and prognosis. Hum Genet 95: 161-170.
• Eggermann K, Mau UA, Bujdosó G, Koltai E, Engels H, Schubert R, et al. 2002. Supernumerary marker chromosomes derived from chromosome 15: analysis of 32 new cases. Clin Genet 62: 89-93.
• Gentile M, Susca F, Resta N, Stella A, Cascone A, Guanti G, 1993. Infertility in carriers of two bisatellited marker chromosomes. Clin Genet 44: 71-75.
• Grammatico P, Di Rosa C, Roccella M, Falcolini M, Palliccia A, Roccella F, Del Porto G, 1994. Inv dup(15): contribution to the clinical definition of phenotype. Clin Genet 46: 233-237.
• Hamerton JL, Canning N, Ray M, Smith S, 1975. A cytogenetic survey of 14,069 newborn infants. I. Incidence of chromosome abnormalities. Clin Genet 8: 223-243.
• Huang B, Crolla JA, Christian SL, Wolf-Ledbetter ME, Macha ME, Papenhausen PN, Ledbetter DH, 1997. Refined molecular characterization of the breakpoints in small inv dup(15) chromosomes. Hum Genet 99: 11-17.
• Jacobs PA, Melville M, Ratcliffe S, Keay AJ, Syme J, 1974. A cytogenetic survey of 11,680 newborn infants. Ann Hum Genet 37: 359-376.
• Martin-Lucas MA, Pérez-Castillo A, Abrisqueta JA, 1986. Infertility associated with two accessory bisatellited chromosomes. Hum Genet 73:133-136.
• Robinson WP, Wagstaffs J, Bernasconi F, Baccichetti C, Artifoni L, Franzoni E, et al. 1993. Uniparental disomy explains the occurrence of the Angelman or Prader-Willi syndrome in patients with an additional small inv dup(15) chromosome. J Med Genet 30: 756-760.
• Shim SH, Lee C, Park YJ, Lee HJ, Park WI, Cho YH, 2001. Two inv dup(15) chromosomes in a woman with repeated abortions. Am J Med Genet 104: 303-306.
• Wandstrat AE, Schwartz S, 2000. Isolation and molecular analysis of inv dup(l 5) and construction of a physical map of common breakpoint in order to elucidate their mechanism of formation. Chromosoma 109: 498-505.
• Webb T, 1994. Inv dup(15) supernumerary marker chromosomes. J Med Genet 31: 585-594.