OBJECTIVE: To report the presence of normal sperm cells for chromosome 14 in a homologous 14;14 Robertsonian translocation carrier. DESIGN: Case report. SETTING: In vitro fertilization clinic and genetics laboratory in a private hospital. PATIENT(S): Infertile couple referred for IVF. INTERVENTION(S): Conventional cytogenetic and fluorescence in situ hybridization (FISH) techniques were used in karyotype and sperm FISH analysis. Three IVF treatments were performed, two of which included preimplantation genetic diagnosis (PGD). MAIN OUTCOME MEASURE(S): Cytogenetic analysis revealed pure 45,XY,t(14;14)(q10;q10) karyotype. Sperm FISH analysis for chromosome 14 revealed 13% normal sperm cells in the sperm sample. RESULT(S): Sperm FISH analysis revealed 13% normal sperm cells for chromosome 14 in the homologous 14;14 Robertsonian translocation carrier. The couple underwent two IVF cycles together with PGD. In the first trial there was no suitable embryo for transfer. In the second trial one normal blastocyst was transferred on day 6. However, pregnancy was not established in this second PGD cycle. CONCLUSION(S): To our knowledge, this is the first sperm FISH study revealing the presence of normal sperm in the ejaculate of a pure homologous translocation carrier. The PGD study performed for this couple is also unique in the literature.
OBJECTIVE: To report the presence of normal sperm cells for chromosome 14 in a homologous 14;14 Robertsonian translocation carrier. DESIGN: Case report. SETTING: In vitro fertilization clinic and genetics laboratory in a private hospital. PATIENT(S): Infertile couple referred for IVF. INTERVENTION(S): Conventional cytogenetic and fluorescence in situ hybridization (FISH) techniques were used in karyotype and sperm FISH analysis. Three IVF treatments were performed, two of which included preimplantation genetic diagnosis (PGD). MAIN OUTCOME MEASURE(S): Cytogenetic analysis revealed pure 45,XY,t(14;14)(q10;q10) karyotype. Sperm FISH analysis for chromosome 14 revealed 13% normal sperm cells in the sperm sample. RESULT(S): Sperm FISH analysis revealed 13% normal sperm cells for chromosome 14 in the homologous 14;14 Robertsonian translocation carrier. The couple underwent two IVF cycles together with PGD. In the first trial there was no suitable embryo for transfer. In the second trial one normal blastocyst was transferred on day 6. However, pregnancy was not established in this second PGD cycle. CONCLUSION(S): To our knowledge, this is the first sperm FISH study revealing the presence of normal sperm in the ejaculate of a pure homologous translocation carrier. The PGD study performed for this couple is also unique in the literature.