A de novo complex chromosome rearrangement involving three chromosomes (2, 13, and 18) in an oligospermic male (original) (raw)
Related papers
Fertility and Sterility, 2011
Objective: To report a rare case of male infertility associated with oligoasthenoteratozoospermia and complementary isochromosome 46 XY, i(9)(p10),i(9)(q10). Design: Case report. Setting: Reference hospital. Patient(s): Infertile oligoastenozoospermic man with complementary isochromosome 46,XY, i(9)(p10),i(9)(q10). Intervention(s): Peripheral blood lymphocytes obtained for karyotyping, and florescence in situ hybridization (FISH) analysis for gonadal mosaicism in ejaculated spermatozoa. Main Outcome Measure(s): Physical examination, semen analysis, GBG banding, and FISH procedure. Result(s): The semen analysis revealed oligoasthenoteratozoospermia. The lymphocytic karyotype detected a complementary isochromosome 46,XY, i(9)(p10),i(9)(q10), and the FISH procedure showed abnormal sperm. Conclusion(s): This the first report of oligoasthenoteratozoospermia associated with complementary isochromosome 46,XY, i(9)(p10),i(9)(q10). (Fertil Steril Ò 2011;95:290.e5-e8.
Segregation of chromosomes in spermatozoa of four Hungarian translocation carriers
Fertility and Sterility, 2007
To determine the segregation pattern of the translocated chromosomes in spermatozoa of human males with translocations. Design: Retrospective case-control study. Setting: Hospital-based genetic laboratory for reproductive biology. Patient(s): A carrier with Y-autosome reciprocal translocation, two with autosome-autosome reciprocal translocations, and one with Robertsonian translocation. Intervention(s): Blood sample and sperm sample collection from each translocation carrier. Main Outcome Measure(s): Fluorescence in situ hybridization on lymphocyte slides to characterize each translocation case. Fluorescence in situ hybridization with specific DNA probes for each of the sperm samples to characterize the chromosomes involved in the rearrangement and to evaluate the possible interchromosomal effect for chromosomes 18, X, and Y.
Fetal Diagnosis and Therapy, 2007
Objective: To determine an unusual complex chromosome rearrangement found in a man with oligospermia with a normal phenotype. Design: Case report with a review of the literature. Setting: Academic research environment. Patient(s): A man with oligospermia but otherwise apparently healthy. Intervention(s): Peripheral blood lymphocytes were used for karyotyping, and metaphases were analyzed by the fluorescence in situ hybridization (FISH) procedure. Further characterization of the karyotype was done by using multicolor banding (MCB) probes. Main Outcome Measure(s): Physical examination, semen analysis, GTG banding, FISH, MCB. Result(s): The semen analysis revealed oligospermia. The lymphocytic karyotype detected an unusual complex chromosome rearrangement involving chromosomes 2, 13, and 18 determined by banding cytogenetics. Karyotype was established as 46,XY,t(2;13;18)ins(2;13)(2qter/2p25.1::13q13/13q22::18q12.3/18qter;13pter/ 13q13::2p25/2pter;18pter/18q12.3::13q22/13qter) after MCB analysis. Conclusion(s): The association of an unusual complex chromosome rearrangement with three recurrent spontaneous abortions was reported. (Fertil Steril Ò 2009;92:391.e9-e12. Ó2009 by American Society for Reproductive Medicine.
Fertility and Sterility, 2009
Objective: To compare the chromosome error rate among oocytes from stimulated ovaries after retrieval of 1-5 oocytes, 6-10 oocytes, and >10 oocytes. Design: Retrospective cohort study. Setting: A university-based human genetic institute in collaboration with a private fertility center. Patient(s): Nine hundred thirty-three women undergoing intracytoplasmic sperm injection (ICSI) with a poor prognosis. Intervention(s): Oocyte collection with ovarian stimulation. Polar body testing of ICSI oocytes for common chromosome errors. Main Outcome Measure(s): Chromosome error rate in oocytes, as determined by five-color fluorescence in situ hybridization. Result(s): In women less than 35 years and women between 35 and 40 years undergoing the first ICSI cycle, oocytes from the high-yield group had an increased likelihood for detectable chromosome errors (50.9% and 54.6%, respectively), compared to the intermediate-yield group (34.9% and 43.8%) and the low-yield group (23.3% and 41.2%). The overall high rate (R50%) of chromosomally abnormal oocytes in women more than 40 years appeared to be mainly due to the maternal age effect and increased only slightly with oocyte yield. Conclusion(s): Oocyte yield may be considered as an indicator of ovarian response to hormone stimulation. In women up to 40 years a high yield of oocytes after superovulation is associated with an increased chromosome error rate. (Fertil Steril Ò 2009;91:733-8.
Fertility and Sterility, 2004
To characterize a complex chromosome rearrangement (CCR) previously detected by G-banding in peripheral blood lymphocytes, as 46,X,-2,-11,-22,-X,ϩmar 1ϩmar2ϩmar3ϩmar4 in a patient with primary amenorrhea. Design: Case report. Setting: University faculty of Medicine and hospital. Patient(s): A 36-year-old woman with primary amenorrhea. Intervention(s): Fluorescence in situ hybridization (FISH). Main Outcome Measure(s): Use of commercially available M-FISH probe (24 colors simultaneously) and whole chromosome painting probes for chromosomes 2, 11, 22, and X to characterize the CCR. Result(s): The use of conventional and multiple FISH allowed the redefinition of the CCR, showing a cryptic insertion of chromosome 11 in marker 3 previously suspected by M-FISH. The combination of G-banding and FISH data revealed that four chromosomes and seven breakpoints, including 2q21, 2q31, 11q22.1, 11q22.3, 22q13.3, Xp11.21, and Xq24, were implicated in this CCR.
Fertility and Sterility, 2011
Objective: To directly study the meiotic segregation of a complex reciprocal translocation (CCR) as well as the occurrence of an interchromosomal effect. Design: In situ sperm fluorescence in situ hybridization (FISH) analysis. Setting: Department of Cytogenetics and INSERM research center. Patient(s): A male carrier of a balanced complex reciprocal translocation t(5;13;14)(q23;q21;q31). Intervention(s): Sperm samples from the carrier and direct FISH analysis on sperm slide preparations. Main Outcome Measure(s): Meiotic segregation pattern determined on sperm nuclei and estimation of the incidence of unbalanced spermatozoa and an interchromosomal effect (ICE).