Comprehensive meiotic segregation analysis of a 4-breakpoint t(1;3;6) complex chromosome rearrangement using single sperm array comparative genomic hybridization and FISH.

Complex chromosomal rearrangements (CCR) represent rare structural chromosome abnormalities frequently associated with infertility. In this study, meiotic segregation in spermatozoa of an infertile normospermic carrier of a 4-breakpoint t(1;3;6) CCR was analysed. A newly developed array comparative genomic hybridization protocol was used, and all chromosomes in 50 single sperm cells were simultaneously examined.

Balanced chromosomal translocations in men: relationships among semen parameters, chromatin integrity, sperm meiotic segregation and aneuploidy.

Purpose: To analyse relationships between semen parameters, sperm chromatin integrity and frequencies of chromosomally unbalanced, disomic and diploid sperm in 13 Robertsonian and 37 reciprocal translocation carriers and to compare the results with data from 10 control donors.

Methods: Conventional semen analysis, Sperm Chromatin Structure Assay and FISH with probes for chromosomes involved in the individual translocations and for chromosomes X, Y, 7, 8, 13, 18 and 21.

Results: Normal semen parameters were found in 30.

Aneuploidy detection in pigs using comparative genomic hybridization: from the oocytes to blastocysts.

Data on the frequency of aneuploidy in farm animals are lacking and there is the need for a reliable technique which is capable of detecting all chromosomes simultaneously in a single cell. With the employment of comparative genomic hybridization coupled with the whole genome amplification technique, this study brings new information regarding the aneuploidy of individual chromosomes in pigs. Focus is directed on in vivo porcine blastocysts and late morulas, 4.

Sperm and embryo analysis of similar t(7;10) translocations transmitted in two families.

Objective: To compare the sperm meiotic segregation profiles in two men from families with similar t(7;10) translocations and determine the frequency of unbalanced sperm and preimplantation embryos in one couple.

Design: Analysis of sperm nuclei and blastomeres by fluorescence in situ hybridization (FISH).

Setting: Research institute.

der(4)t(Y;4): Three-generation transmission and sperm meiotic segregation analysis.

We present a family where five members (three males and two females) are carriers of der(4)t(Y;4)(q11.23;p16.3).

Monozygotic twins with discordant karyotypes following preimplantation genetic screening and single embryo transfer: case report.

Purpose: to report a case of monozygotic monochorial diamniotic twins with discordant karyotypes.

Methods And Results: the pregnancy was achieved following a treatment cycle with intracytoplasmic sperm injection (ICSI) and preimplantation genetic screening (PGS) for chromosomes X, Y, 13, 16, 18, 21, 22. One embryo euploid for studied chromosomes was transferred.

Sperm meiotic segregation and aneuploidy in a 46,X,inv(Y),t(10;15) carrier: case report.

Objective: To analyze the meiotic segregation and an interchromosomal effect in sperm of an inv(Y) (p11.1;q11.2),t(10;15) (q25.

Sperm and embryo analysis in a carrier of supernumerary inv dup(15) marker chromosome.

We identified a small, paternally inherited, supernumerary marker chromosome, inv dup(15), in a phenotypically normal and normozoospermic male from a couple with reproductive problems. Sperm analysis by fluorescence in situ hybridization (FISH) showed that the marker was present in 26% of sperm nuclei. The disomy 15 was 10 times higher than in normal control donors.

Hybridization of the 18 alpha-satellite probe to chromosome 1 revealed in PGD.

Although the chromosome 18 alpha-satellite probe is considered to have a very low polymorphism rate, the routine use of this probe in prenatal diagnosis revealed rare variants in size and copy number of these sequences. A polymorphic signal was detected in preimplantation genetic diagnosis (PGD) for aneuploidy, in a patient with repeated early miscarriages. A third small signal of chromosome 18 alpha-satellite probe was observed in two of four evaluated embryos.

Sperm fluorescence in situ hybridization study of meiotic segregation and an interchromosomal effect in carriers of t(11;18).

Background: Alanced translocations are associated with infertility, spontaneous abortions and birth defects.

Methods: We report the analysis, by multicolour fluorescence in situ hybridization (FISH), of meiotic segregation and aneuploidy of chromosomes X, Y, 7, 8 and 21 in sperm from three men who are carriers of two different translocations involving chromosomes 11 and 18. A control group comprised ten young, healthy normospermic men.