Aneuploidy study in sperm and preimplantation embryos from nonmosaic 47,XYY men. 2007

Eric Gonzalez-Merino, and Christine Hans, and Marc Abramowicz, and Yvon Englert, and Serena Emiliani
Fertility Clinic, Erasme Hospital and Research Laboratory on Human Reproduction, Faculty of Medicine, French Speaking Free University of Brussels, Brussels, Belgium. ergonzal@ulb.ac.be <ergonzal@ulb.ac.be>

OBJECTIVE To determine gonosomal and autosomal aneuploidy rate in sperm and preimplantation embryos from nonmosaic 47,XYY males. METHODS Sperm and blastomere analysis by fluorescence in situ hybridization. METHODS Fertility clinic, academic hospital. METHODS Two 47,XYY men undergoing preimplantation genetic diagnosis (PGD) and eight 46,XY males distributed in two control groups (fertile and infertile). METHODS Sperm-sample collection for fluorescence in situ hybridization and PGD. METHODS Aneuploidy frequencies for chromosomes X, Y, 13, 16, 18, 21, and 22 in sperm and embryos. RESULTS Patients with 47,XYY presented global sperm gonosomal and autosomal aneuploidy frequency of 37.23%-37.80%, with XY disomy being the most frequent abnormality (16.70%-19.01%). This aneuploidy rate was statistically significantly different from that found in both 46,XY infertile controls (1.07%) and 46,XY fertile controls (1.04%). In total, 47 preimplantation embryos were analyzed, of which 32 were classified as normal (68%) and 15 as aneuploid (32%). Among the abnormal embryos, 9 presented gonosomal abnormalities, and 6, autosomal abnormalities. CONCLUSIONS High rate of gonosomal and autosomal aneuploidy was observed in sperm and preimplantation embryos from nonmosaic 47,XYY males. The offspring of this category of patients may be at higher risk of chromosomal abnormalities, and therefore PGD can be suggested to these patients.

UI MeSH Term Description Entries
D008297 Male Males
D001755 Blastocyst A post-MORULA preimplantation mammalian embryo that develops from a 32-cell stage into a fluid-filled hollow ball of over a hundred cells. A blastocyst has two distinctive tissues. The outer layer of trophoblasts gives rise to extra-embryonic tissues. The inner cell mass gives rise to the embryonic disc and eventual embryo proper. Embryo, Preimplantation,Blastocysts,Embryos, Preimplantation,Preimplantation Embryo,Preimplantation Embryos
D005260 Female Females
D005307 Fertilization in Vitro An assisted reproductive technique that includes the direct handling and manipulation of oocytes and sperm to achieve fertilization in vitro. Test-Tube Fertilization,Fertilizations in Vitro,In Vitro Fertilization,Test-Tube Babies,Babies, Test-Tube,Baby, Test-Tube,Fertilization, Test-Tube,Fertilizations, Test-Tube,In Vitro Fertilizations,Test Tube Babies,Test Tube Fertilization,Test-Tube Baby,Test-Tube Fertilizations
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000328 Adult A person having attained full growth or maturity. Adults are of 19 through 44 years of age. For a person between 19 and 24 years of age, YOUNG ADULT is available. Adults
D000782 Aneuploidy The chromosomal constitution of cells which deviate from the normal by the addition or subtraction of CHROMOSOMES, chromosome pairs, or chromosome fragments. In a normally diploid cell (DIPLOIDY) the loss of a chromosome pair is termed nullisomy (symbol: 2N-2), the loss of a single chromosome is MONOSOMY (symbol: 2N-1), the addition of a chromosome pair is tetrasomy (symbol: 2N+2), the addition of a single chromosome is TRISOMY (symbol: 2N+1). Aneuploid,Aneuploid Cell,Aneuploid Cells,Aneuploidies,Aneuploids,Cell, Aneuploid,Cells, Aneuploid
D012729 Sex Chromosome Aberrations Abnormal number or structure of the SEX CHROMOSOMES. Some sex chromosome aberrations are associated with SEX CHROMOSOME DISORDERS and SEX CHROMOSOME DISORDERS OF SEX DEVELOPMENT. Sex Chromosome Abnormalities,Abnormalities, Sex Chromosome,Chromosome Abnormalities, Sex,Aberration, Sex Chromosome,Aberrations, Sex Chromosome,Abnormality, Sex Chromosome,Chromosome Aberration, Sex,Chromosome Aberrations, Sex,Chromosome Abnormality, Sex,Sex Chromosome Aberration,Sex Chromosome Abnormality
D013094 Spermatozoa Mature male germ cells derived from SPERMATIDS. As spermatids move toward the lumen of the SEMINIFEROUS TUBULES, they undergo extensive structural changes including the loss of cytoplasm, condensation of CHROMATIN into the SPERM HEAD, formation of the ACROSOME cap, the SPERM MIDPIECE and the SPERM TAIL that provides motility. Sperm,Spermatozoon,X-Bearing Sperm,X-Chromosome-Bearing Sperm,Y-Bearing Sperm,Y-Chromosome-Bearing Sperm,Sperm, X-Bearing,Sperm, X-Chromosome-Bearing,Sperm, Y-Bearing,Sperm, Y-Chromosome-Bearing,Sperms, X-Bearing,Sperms, X-Chromosome-Bearing,Sperms, Y-Bearing,Sperms, Y-Chromosome-Bearing,X Bearing Sperm,X Chromosome Bearing Sperm,X-Bearing Sperms,X-Chromosome-Bearing Sperms,Y Bearing Sperm,Y Chromosome Bearing Sperm,Y-Bearing Sperms,Y-Chromosome-Bearing Sperms
D017404 In Situ Hybridization, Fluorescence A type of IN SITU HYBRIDIZATION in which target sequences are stained with fluorescent dye so their location and size can be determined using fluorescence microscopy. This staining is sufficiently distinct that the hybridization signal can be seen both in metaphase spreads and in interphase nuclei. FISH Technique,Fluorescent in Situ Hybridization,Hybridization in Situ, Fluorescence,FISH Technic,Hybridization in Situ, Fluorescent,In Situ Hybridization, Fluorescent,FISH Technics,FISH Techniques,Technic, FISH,Technics, FISH,Technique, FISH,Techniques, FISH

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