title: Chromosomal segregation in sperm of Robertsonian translocation carriers.
abstract: OBJECTIVE
  To study meiotic segregation patterns of Robertsonian translocations in sperm of male carriers and to assess the frequencies of unbalanced sperm formation.
  
  
  METHODS
  FISH with combination of probes to detect all the variants of meiotic segregation was performed on decondensed sperm nuclei of 5 carriers of der(13;14), 3 carriers of der(14;21) and one carrier of a rare der(13;21) translocation.
  
  
  RESULTS
  The frequency of sperm with alternate segregation and normal/balanced chromosomal complement ranged from 68 % to 94.4 % (mean 79.2 ± 8.4). Adjacent segregation was detected in 17.9 ± 7.3 % of sperm (from 5.6 % to 29 %). No significant differences in frequencies of gametes with nullisomies and disomies of chromosomes involved in translocations were observed. The mean frequency of 3:0 segregation products was 2.5 ± 1.4 %.
  
  
  CONCLUSIONS
  All analyzed patients showed homogenous segregation pattern with clear predominance of alternate segregation resulting in normal/balanced sperm production. Still, from 5.8-32 % (mean 20.4 ± 8.3 %) of sperm was unbalanced, which is the evidence of the increased risk of unbalanced offspring in carriers of Robertsonian translocations. Our results highlight the importance of genetic counseling of Robertsonian translocation carriers prior to ICSI or IVF.
authors.affiliation: Clinic of Reproductive Medicine "Nadiya", M. Kryvonosa St., 19a, Kyiv, Ukraine, l.pylyp@ivf.com.ua.
authors.forename: Larysa Y
authors.initials: LY
authors.lastname: Pylyp
authors.forename: Valery D
authors.initials: VD
authors.lastname: Zukin
authors.forename: Nadiya M
authors.initials: NM
authors.lastname: Bilko
mesh_terms: D000328:Adult; D020090:Chromosome Segregation / Q000235:genetics*; D002882:Chromosomes, Human, Pair 13 / Q000235:genetics; D002883:Chromosomes, Human, Pair 14 / Q000235:genetics; D002891:Chromosomes, Human, Pair 21 / Q000235:genetics; D005817:Genetic Counseling; D006579:Heterozygote; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008297:Male; D008540:Meiosis; D020554:Sperm Injections, Intracytoplasmic / Q000379:methods; D013094:Spermatozoa / Q000166:cytology*; D014178:Translocation, Genetic
references.citation: Am J Med Genet. 1983 Oct;16(2):169-72
references.pmid: 6650563
references.citation: J Assist Reprod Genet. 2013 Mar;30(3):383-90
references.pmid: 23288665
references.citation: Fertil Steril. 2011 Oct;96(4):826-32
references.pmid: 21871621
references.citation: Reprod Biomed Online. 2008 Apr;16(4):514-22
references.pmid: 18413060
references.citation: Fertil Steril. 2010 Mar 1;93(4):1061-5
references.pmid: 19135658
references.citation: Fertil Steril. 2007 Jul;88(1):212.e5-11
references.pmid: 17274993
references.citation: Eur J Med Genet. 2012 Apr;55(4):245-51
references.pmid: 22406402
references.citation: Hum Genet. 1991 May;87(1):81-3
references.pmid: 2037286
references.citation: Fertil Steril. 2010 Jun;94(1):283-9
references.pmid: 20034626
references.citation: Prenat Diagn. 2006 Apr;26(4):303-7
references.pmid: 16491515
references.citation: Int J Androl. 1982 Feb;5(1):21-6
references.pmid: 7068254
references.citation: J Assist Reprod Genet. 1998 May;15(5):290-6
references.pmid: 9604762
references.citation: J Assist Reprod Genet. 2007 Sep;24(9):406-11
references.pmid: 17653848
references.citation: Mol Hum Reprod. 2006 Mar;12(3):209-15
references.pmid: 16524928
references.citation: Ann Hum Genet. 1989 Jan;53(1):49-65
references.pmid: 2658738
references.citation: Prenat Diagn. 2000 Jul;20(7):599-602
references.pmid: 10913961
references.citation: J Assist Reprod Genet. 2011 Jul;28(7):607-13
references.pmid: 21448573
references.citation: Hum Reprod. 2006 Apr;21(4):976-9
references.pmid: 16361287
references.citation: Hum Genet. 1988 Dec;80(4):357-61
references.pmid: 3198113
references.citation: Hum Reprod. 2011 Jun;26(6):1575-84
references.pmid: 21441546
references.citation: Cytogenet Cell Genet. 1984;38(1):14-22
references.pmid: 6200272
references.citation: Hum Reprod. 2012 Mar;27(3):930-7
references.pmid: 22238111
references.citation: Fertil Steril. 1986 Dec;46(6):1118-23
references.pmid: 2946611
references.citation: Hum Reprod. 2010 Jul;25(7):1631-42
references.pmid: 20472914
references.citation: Hum Genet. 1995 Dec;96(6):655-60
references.pmid: 8522322
references.citation: Hum Reprod. 2000 May;15(5):1136-9
references.pmid: 10783366
references.citation: Hum Reprod. 2009 Sep;24(9):2365-71
references.pmid: 19493873
references.citation: Hum Reprod. 2001 Nov;16(11):2274-7
references.pmid: 11679503
references.citation: Hum Genet. 1987 Jun;76(2):116-20
references.pmid: 3475245
references.citation: Hum Genet. 2000 Feb;106(2):188-93
references.pmid: 10746560
references.citation: Fertil Steril. 2011 Dec;96(6):1337-43
references.pmid: 21963229
references.citation: Fertil Steril. 2009 Aug;92(2):583-9
references.pmid: 18706548
references.citation: Mol Hum Reprod. 2001 May;7(5):483-8
references.pmid: 11331672