Molecular cytogenetics analysis with whole chromosome paint probes of sperm nuclei from a (13;15) Robertsonian translocation carrier

Rives, Nathalie; Ravel, Célia; Duchesne, Véronique; Siffroi, Jean‐Pierre; Mousset-Siméon, N.; Macé, Bertrand

doi:10.1007/s10038-005-0259-3

Cited by 13 publications

(7 citation statements)

References 22 publications

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“…Male carriers usually have oligozoospermia (3)(4)(5)(6)(7)(8)(9)(10)(11), and intracytoplasmic sperm injection is suggested to be applied, whereas the clinical manifestations of the female carriers are usually repeated abortions, malformation, or death fetuses. Munn e's (17) study indicated that there was no difference between male and female chromosome abnormalities in embryos of RTs.…”

Section: Discussionmentioning

confidence: 99%

“…Carriers of RTs are usually phenotypically normal; nevertheless, they suffer from more frequent fertility problems, such as oligozoospermia or recurrent spontaneous abortion (3)(4)(5)(6)(7)(8)(9)(10)(11). Theoretically, a RT carrier has six different karyotype gametes.…”

mentioning

confidence: 98%

“…Figure 1 shows the meiotic segregation patterns and the embryo types of a RT carrier of (13;14). In recent years, many scholars studied meiotic segregation in spermatozoa in male carriers of RTs (3)(4)(5)(6)(7)(8)(9)(10)(11). Most of these studies indicated a strong prevalence of alternate segregation in gametes.…”

mentioning

confidence: 98%

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Translocation chromosome karyotypes of the Robertsonian translocation carriers' embryos

Huang

Liu

Qiao

et al. 2010

Fertility and Sterility

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Section: Discussionmentioning

confidence: 99%

mentioning

confidence: 98%

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Translocation chromosome karyotypes of the Robertsonian translocation carriers' embryos

Huang

Liu

Qiao

et al. 2010

Fertility and Sterility

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“…During the last decade, meiotic segregation in spermatozoa has been repeatedly studied in male carriers of Rob translocations [2][3][4][5][6][7][8][9][10][11][12]. Most of these studies showed strong prevalence of alternate segregation in gametes.…”

Section: Introductionmentioning

confidence: 99%

Analysis of meiotic segregation patterns and interchromosomal effects in sperm from six males with Robertsonian translocations

Chen

Huang

Liu

et al. 2007

J Assist Reprod Genet

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Purpose To provide more genetic information about meiotic segregation behavior and the possibility of interchromosomal effects (ICE) in spermatozoa from carriers of Robertsonian (Rob) translocations. Materials and methods Meiotic segregation behavior in spermatozoa from six carriers of Rob translocations, four t(13;14), one t(14;22) and one t(13;21), was investigated by dual fluorescence in-situ hybridization (FISH). Aneuploidy for chromosomes 18, X and Y was studied by triple FISH. Results The rate of normal/balanced spermatozoa resulting from alternate segregation ranged from 78.14 to 86.88%. The frequency of unbalanced spermatozoa resulting from adjacent segregation varied between 11.70 and 19.53%. The higher frequencies of aneuploidy for sex chromosome were observed in three Rob translocation carriers. In addition, the increased rates of diploid were found in two t(13;14) carriers. Conclusions Alternate segregation is dominant in the different types of Rob translocations. Some carriers may be at an increased risk for ICE.

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“…Accordingly, the FISH‐analysis does not allow determination of the actual relationship between the two cell lines in semen. However, previous studies of spermatozoa from dic(13;15) translocation carriers have shown disomy 13 and nullisomy 13 spermatozoa at levels of 3–12% for unselected sperm [Rives et al, 2005; Moradkhani et al, 2006; Ogur et al, 2006]. Consequently, the vast majority of the disomy 13 and nullisomy 13 spermatozoa in the present study (in total 41.8%) ought to be derived from the rob(13;13) cell line (Table I).…”

Section: Discussionmentioning

confidence: 99%

Jumping translocation in a phenotypically normal male: A study of mosaicism in spermatozoa, lymphocytes, and fibroblasts

Iwarsson

Sahlén

Nordgren

2009

American J of Med Genetics Pt A

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Both Robertsonian translocations, rob(13;13) and rob(13;15), (in the present case defined as dic(13;15)), are rare chromosomal rearrangements and there is scarce information regarding their behavior during meiosis. In this report we describe a man with mosaicism for two cell lines, each cell line containing a different de novo Robertsonian translocation with the common breakpoint in the centromeric region on chromosome 13. The karyotype was finally defined as: 45,XY,rob(13;13)(q10;q10)[29]/45,XY,dic(13;15)(p11.2;p12)[22], a phenomenon referred to as jumping translocation. The relative occurrence of the two clones in lymphocytes and fibroblasts as well as the meiotic segregation in spermatozoa and the mechanism of formation were studied using karyotype analysis, fluorescence in situ hybridization (FISH), and quantitative fluorescence-PCR. Karyotype analysis of cultured lymphocytes revealed 57% rob(13;13) cells and 43% dic(13;15) cells and for cultured skin fibroblasts the figures were almost identical (56% and 44%, respectively). FISH analysis showed 55% balanced nuclei for unselected spermatozoa and after swim-up selection the number of balanced spermatozoa decreased to 41%. In addition, 16% of the unselected spermatozoa and 27% of the spermatozoa after swim-up selection carried an additional chromosome 13, indicating a high risk for a trisomy 13 offspring. Swim-up selection did not increase the number of balanced spermatozoa.

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Molecular cytogenetics analysis with whole chromosome paint probes of sperm nuclei from a (13;15) Robertsonian translocation carrier

Cited by 13 publications

References 22 publications

Translocation chromosome karyotypes of the Robertsonian translocation carriers' embryos

Translocation chromosome karyotypes of the Robertsonian translocation carriers' embryos

Analysis of meiotic segregation patterns and interchromosomal effects in sperm from six males with Robertsonian translocations

Jumping translocation in a phenotypically normal male: A study of mosaicism in spermatozoa, lymphocytes, and fibroblasts

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