Meiotic segregation analysis in male translocation carriers by using fluorescent in situ hybridization.

Balanced reciprocal and Robertsonian translocations are the most common structural chromosome abnormalities in humans, with incidences of 0.7 and 1.23 per 1000. These translocations can affect fertility and/or pregnancy outcome because of possibly impaired production of gametes with an unbalanced zygote caused by the parental arrangement. Fertility problems in male translocation carriers are because of various degrees of sperm alterations that are directly related to the disturbance of the meiotic process. Investigation of human sperm chromosomes was performed by karyotyping spermatozoa after penetration of zona-free hamster oocytes, karyotype analysis now being possible to analyse the segregation patterns by using fluorescent in situ hybridization (FISH). Here, we document the results of meiotic segregation analysis for four Robertsonian and four reciprocal translocation carriers by FISH. In the sperm of Robertsonian translocation males, the majority of spermatozoa were normal/balanced. On the other hand, males with reciprocal translocations demonstrated a high rate of unbalanced spermatozoa of about 50% on meiotic segregation, with an unusually high rate (23.5%) of 3 : 1 segregation. This knowledge can be used for genetic counselling of families with these types of translocations.

[1]  A. Rudnicka,et al.  First-trimester or second-trimester screening, or both, for Down's syndrome. , 2005, The New England journal of medicine.

[2]  F. Fellmann,et al.  Segregation of chromosomes in sperm of Robertsonian translocation carriers , 2005, Cytogenetic and Genome Research.

[3]  J. Nielsen,et al.  Chromosome abnormalities found among 34910 newborn children: results from a 13-year incidence study in Århus, Denmark , 2005, Human Genetics.

[4]  N. Douet-Guilbert,et al.  Meiotic segregation of translocations during male gametogenesis. , 2004, International journal of andrology.

[5]  N. Suzumori,et al.  Poor prognosis of recurrent aborters with either maternal or paternal reciprocal translocations. , 2004, Fertility and sterility.

[6]  J. Egozcue,et al.  Preferential alternate segregation in the common t(11;22)(q23;q11) reciprocal translocation: sperm FISH analysis in two brothers. , 2004, Reproductive biomedicine online.

[7]  J. Egozcue,et al.  Meiotic studies and synaptonemal complex analysis in two infertile males with a 13/14 balanced translocation , 2004, Human Genetics.

[8]  A. Robinson,et al.  The 11q;22q translocation: A collaborative study of 20 new cases and analysis of 110 families , 2004, Human Genetics.

[9]  C. E. Ford,et al.  The 11q;22q translocation: A European collaborative analysis of 43 cases , 2004, Human Genetics.

[10]  N. Rives,et al.  Fluorescence in situ hybridisation (FISH) analysis of chromosome segregation and interchromosomal effect in spermatozoa of a reciprocal translocation t(9,10)(q11;p11.1) carrier , 2003, Journal of Human Genetics.

[11]  S. Munné,et al.  Predictive value of sperm fluorescence in situ hybridization analysis on the outcome of preimplantation genetic diagnosis for translocations. , 2003, Fertility and sterility.

[12]  A. Geneix,et al.  Sperm analysis by FISH in a case of t(17; 22) (q11; q12) balanced translocation: case report. , 2002, Human reproduction.

[13]  P. Braude,et al.  Robertsonian translocations--reproductive risks and indications for preimplantation genetic diagnosis. , 2001, Human reproduction.

[14]  Q. Shi,et al.  Aneuploidy in human spermatozoa: FISH analysis in men with constitutional chromosomal abnormalities, and in infertile men. , 2001, Reproduction.

[15]  J. Demongeot,et al.  Cooperation of selection and meiotic mechanisms in the production of imbalances in reciprocal translocations , 2000, Cytogenetic and Genome Research.

[16]  M. Scholtes,et al.  Chromosomal aberrations in couples undergoing intracytoplasmic sperm injection: influence on implantation and ongoing pregnancy rates. , 1998, Fertility and sterility.

[17]  M. Dhont,et al.  Two cases of Robertsonian translocations in oligozoospermic males and their consequences for pregnancies induced by intracytoplasmic sperm injection. , 1997, Human reproduction.

[18]  C. Aston,et al.  The Meiotic Segregation Pattern of a Reciprocal Translocation t(10;12)(q26.1; p13.3) by Fluorescence in situ Hybridization Sperm Analysis , 1997, European journal of human genetics : EJHG.

[19]  E. Hook,et al.  Risks of unbalanced progeny at amniocentesis to carriers of chromosome rearrangements: data from United States and Canadian laboratories. , 1989, American journal of medical genetics.

[20]  A. Boué,et al.  A collaborative study of the segregation of inherited chromosome structural rearrangements in 1356 prenatal diagnoses , 1984, Prenatal diagnosis.

[21]  R. Martín,et al.  Analysis of human sperm chromosome complements from a male heterozygous for a reciprocal translocation t(11;22)(q23;q11) , 1984, Clinical genetics.

[22]  M. Guichaoua,et al.  Pachytene analysis of a man with a 13q;14q translocation and infertility. Behavior of the trivalent and nonrandom association with the sex vesicle. , 1984, Cytogenetics and cell genetics.