Sperm fluorescence in situ hybridization analysis reveals normal sperm cells for 14;14 homologous male Robertsonian translocation carrier.
OBJECTIVE
To report the presence of normal sperm cells for chromosome 14 in a homologous 14;14 Robertsonian translocation carrier.


METHODS
Case report.


METHODS
In vitro fertilization clinic and genetics laboratory in a private hospital.


METHODS
Infertile couple referred for IVF.


METHODS
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).


METHODS
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.


RESULTS
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.


CONCLUSIONS
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.
Cinar
Cigdem
C
Reproductive Genetics Laboratory, In Vitro Fertilization Unit, Istanbul Memorial Hospital, Istanbul, Turkey. cigdemcinar78@hotmail.com
Beyazyurek
Cagri
C
Ekmekci
Cumhur Gokhan
CG
Aslan
Cilem
C
Kahraman
Semra
S
D000328:Adult; D002883:Chromosomes, Human, Pair 14; D004624:Embryo Transfer; D005260:Female; D005307:Fertilization in Vitro; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008297:Male; D008875:Middle Aged; D009845:Oligospermia / Q000235:genetics*; D011247:Pregnancy; D011256:Pregnancy Outcome; D013081:Sperm Motility; D013094:Spermatozoa / Q000166:cytology* / Q000502:physiology; D014178:Translocation, Genetic / Q000235:genetics*