R J Laursen1, B Alsbjerg2,3, I Vogel4, C H Gravholt5,6, H Elbaek2, D L Lildballe4, P Humaidan2,3, E M Vestergaard4. 1. The Fertility Clinic, Skive Regional Hospital, Skive, Denmark. rita.laursen@midt.rm.dk. 2. The Fertility Clinic, Skive Regional Hospital, Skive, Denmark. 3. Health, Aarhus University, Aarhus, Denmark. 4. Department of Clinical Genetics, Aarhus University Hospital, Aarhus, Denmark. 5. Department of Endocrinology and Internal Medicine, Aarhus University Hospital, Aarhus, Denmark. 6. Department of Molecular Medicine (MOMA), Aarhus University Hospital, Aarhus, Denmark.
Abstract
INTRODUCTION: We present a case of an infertile male with 46,XX/46,XYchimerism fathering a child after ICSI procedure. METHODS: Conventional cytogenetic analysis on chromosomes, derived from lymphocytes, using standard Q-banding procedures with a 450-550-band resolution and short-tandem-repeat analysis of 14 loci. RESULTS: Analysis of 20 metaphases from lymphocytes indicated that the proband was a karyotypic mosaic with an almost equal distribution between male and female cell lines. In total, 12 of 20 (60%) metaphases exhibited a normal female karyotype 46,XX, while 8 of 20 (40%) metaphases demonstrated a normal male karyotype 46,XY. No structural chromosomal abnormalities were present. Out of 14 STR loci, two loci (D18S51 and D21S11) showed four different alleles in peripheral blood, buccal mucosal cells, conjunctival mucosal cells, and seminal fluid. In three loci (D2S1338, D7S820, and vWA), three alleles were detected with quantitative differences that indicated presence of four alleles. In DNA extracted from washed semen, four alleles were detected in one locus, and three alleles were detected in three loci. This pattern is consistent with tetragametic chimerism. There were no quantitative significant differences in peak heights between maternal and paternal alleles. STR-analysis on DNA from the son confirmed paternity. CONCLUSION: We report a unique case with 46,XX/46,XY chimerism confirmed to be tetragametic, demonstrated in several tissues, with male phenotype and no genital ambiguity with oligospermia fathering a healthy child after IVF with ICSI procedure.
INTRODUCTION: We present a case of an infertile male with 46,XX/46,XYchimerism fathering a child after ICSI procedure. METHODS: Conventional cytogenetic analysis on chromosomes, derived from lymphocytes, using standard Q-banding procedures with a 450-550-band resolution and short-tandem-repeat analysis of 14 loci. RESULTS: Analysis of 20 metaphases from lymphocytes indicated that the proband was a karyotypic mosaic with an almost equal distribution between male and female cell lines. In total, 12 of 20 (60%) metaphases exhibited a normal female karyotype 46,XX, while 8 of 20 (40%) metaphases demonstrated a normal male karyotype 46,XY. No structural chromosomal abnormalities were present. Out of 14 STR loci, two loci (D18S51 and D21S11) showed four different alleles in peripheral blood, buccal mucosal cells, conjunctival mucosal cells, and seminal fluid. In three loci (D2S1338, D7S820, and vWA), three alleles were detected with quantitative differences that indicated presence of four alleles. In DNA extracted from washed semen, four alleles were detected in one locus, and three alleles were detected in three loci. This pattern is consistent with tetragametic chimerism. There were no quantitative significant differences in peak heights between maternal and paternal alleles. STR-analysis on DNA from the son confirmed paternity. CONCLUSION: We report a unique case with 46,XX/46,XY chimerism confirmed to be tetragametic, demonstrated in several tissues, with male phenotype and no genital ambiguity with oligospermia fathering a healthy child after IVF with ICSI procedure.
Authors: E Schoenle; W Schmid; A Schinzel; M Mahler; M Ritter; T Schenker; M Metaxas; P Froesch; E R Froesch Journal: Hum Genet Date: 1983 Impact factor: 4.132