Normal sperm in a 2;2 homologous male translocation carrier

作者：Almeida Carolina^*; Doria Sofia; Moreira Maria; Pinto Joel; Barros Alberto

来源：Journal of Assisted Reproduction and Genetics, 2012, 29(7): 665-668.

DOI：10.1007/s10815-012-9770-6

• Confined gonadal mosaicism
• Homologous chromosome translocation
• Male infertility
• Preimplantation genetic diagnosis
• Sperm analysis

Carriers of balanced structural chromosomal abnormalities are phenotypically normal but are at high risk of infertility. Translocations usually occur between two non-homologous chromosomes. When occur between homologous chromosomes, an extremely rare event, generally involve acrocentric chromosomes. We present an infertile male referred for genetic analysis with a pure balanced homologous 2;2 translocation and normal sperm in the ejaculate. %26lt;br%26gt;Conventional cytogenetic and fluorescence in situ hybridization (FISH) were used in karyotype and sperm analysis, respectively. %26lt;br%26gt;Male%26apos;s karyotype revealed a pure balanced translocation involving homologous chromosomes 2: 46,XY,t(2;2)(p23;q21.2). Sperm analysis by FISH revealed the presence of 15.8 % of normal and 84.2 % of abnormal spermatozoa for chromosome 2. %26lt;br%26gt;This is the first report of confined gonadal mosaicism in a pure homologous non-acrocentric chromosome translocation carrier. Preimplantation genetic diagnosis for chromosome 2 should be offered as a reproductive option.

• 出版日期2012-7