title: Sequential FISH allows the determination of the segregation outcome and the presence of numerical anomalies in spermatozoa from a t(1;8;2)(q42;p21;p15) carrier.
abstract: OBJECTIVE
  To find out the meiotic segregation behaviour of the t(1;8;2)(q42;p21;p15), to evaluate the occurrence of interchromosomal effects, and to determine whether there is an accumulation of unbalanced products in aneuploid/diploid gametes.
  
  
  METHODS
  A sequential FISH protocol based on two successive hybridization rounds over the same spermatozoa was performed to determine the segregation outcome of the rearranged chromosomes. The presence of numerical abnormalities for 13, 18, 21, X and Y was also evaluated by sperm FISH. Those aneuploid/diploid gametes were subsequently relocalized and analyzed for their segregation content through additional hybridization rounds.
  
  
  RESULTS
  The segregation pattern observed reported a very low production of normal/balanced gametes (11.7 %). Significant increased frequencies of diploidies and disomies for chromosomes X/Y and 18 were detected (p < 0.001). Aneuploid and diploid spermatozoa displayed significant increases of 5:1, 6:0 and other unexpected disjunction modes (p < 0.001).
  
  
  CONCLUSIONS
  The strategy developed in this study is a reliable new approach to establish the full segregation pattern of complex chromosome rearrangements (CCR). Results corroborate the low number of normal/balanced spermatozoa produced by CCR carriers and support previous findings regarding an altered segregation pattern in gametes with numerical abnormalities. Altogether this confirms the importance of PGD as a tool to prevent the transmission of chromosomal abnormalities to the offspring in CCR patients.
authors: Unitat de Biologia Cel·lular (Facultat de Biociències), Universitat Autònoma de Barcelona, 08193, Bellaterra, Spain.
authors: Anna
authors: A
authors: Godo
authors: Joan
authors: J
authors: Blanco
authors: Francesca
authors: F
authors: Vidal
authors: Mònica
authors: M
authors: Parriego
authors: Montserrat
authors: M
authors: Boada
authors: Ester
authors: E
authors: Anton
mesh_terms: D000328:Adult; D000782:Aneuploidy; D002869:Chromosome Aberrations; D025063:Chromosome Disorders / Q000235:genetics; D020090:Chromosome Segregation / Q000235:genetics*; D005854:Germ Cells; D006579:Heterozygote; D006801:Humans; D017404:In Situ Hybridization, Fluorescence / Q000379:methods*; D008297:Male; D008540:Meiosis / Q000235:genetics; D013094:Spermatozoa / Q000166:cytology*; D014178:Translocation, Genetic
references: Hum Reprod. 2013 Mar;28(3):840-9
references: 23250926
references: Hum Reprod. 2007 Aug;22(8):2088-92
references: 17573525
references: Hum Reprod. 2004 Dec;19(12):2784-90
references: 15513983
references: Cytogenet Genome Res. 2005;111(3-4):317-36
references: 16192711
references: J Assist Reprod Genet. 2012 Jan;29(1):77-81
references: 22105185
references: Mol Hum Reprod. 2010 Feb;16(2):111-6
references: 20019162
references: Fertil Steril. 2008 Nov;90(5):1680-4
references: 18076880
references: Cytogenet Cell Genet. 1998;82(3-4):204-9
references: 9858818
references: Hum Genet. 1985;71(4):312-20
references: 4077048
references: Hum Reprod Update. 2011 Jul-Aug;17(4):476-94
references: 21486858
references: Am J Med Genet A. 2008 Jul 1;146A(13):1662-9
references: 18536046
references: Fertil Steril. 2011 Jun;95(7):2433.e17-22
references: 21367411
references: J Vis Exp. 2009 Sep 01;(31):
references: 19724245
references: Hum Reprod. 1996 Apr;11(4):722-6
references: 8671315
references: Fertil Steril. 1994 Aug;62(2):394-9
references: 8034090
references: Fertil Steril. 2010 Apr;93(6):1892-902
references: 19254793
references: Cytogenet Cell Genet. 1988;47(3):160-6
references: 3378454
references: Fertil Steril. 2011 Jan;95(1):349-52, 352.e1-5
references: 20864097
references: Pediatrics. 1963 Sep;32:326-37
references: 14063510