A normal birth following preimplantation genetic diagnosis by FISH determination in the carriers of der(15)t(Y;15)(Yq12;15p11) translocations: two case reports.
OBJECTIVE
To investigate the clinical application of fluorescence in situ hybridization (FISH) for assessing chromosome disorders of embryos in preimplantation diagnosis of carriers with der(15)t(Y;15)(q12;p11) translocations.


METHODS
Multicolor FISH was performed using directly-labelled DNA probes, chromosome X with one (DXZ1, Xp11.1-q11.1), but Y with two (DYZ3, Yp11.1-q11.1 and DYZ1, Yq12). Normal embryos were transferred on day 6 at blastocyst stage.


RESULTS
Couple A: Three of 6 biopsied embryos were normal. Two normal blastocysts were transferred, but no pregnancy was achieved. Couple B: Three of 6 biopsied embryos were normal. Two normal blastocysts were transferred. A normal male infant weighing 3,230 g was born by cesarean section on the 39th week of gestation. All of the remaining nonreplaced embryos showed mosaic or der(15).


CONCLUSIONS
Embryos from carries of der(15)t(Y;15)(q12;p11) translocation showed a high frequency of chromosome abnormalities. PGD is a valuable screen tool for those couples to treat their infertility and break the transmission of der(15) chromosome for their offspring.
Chen
Yongjian
Y
The Center of Reproductive Medicine, Peking University Third Hospital, Beijing 100083, China.
Chen
Guian
G
Lian
Ying
Y
Gao
Xuefeng
X
Huang
Jin
J
Qiao
Jie
J
D002884:Chromosomes, Human, Pair 15 / Q000235:genetics*; D041322:Chromosomes, Human, Y / Q000235:genetics*; D004622:Embryo, Mammalian / Q000473:pathology; D005260:Female; D006580:Genetic Carrier Screening / Q000379:methods*; D006579:Heterozygote; D006801:Humans; D017404:In Situ Hybridization, Fluorescence / Q000379:methods*; D007231:Infant, Newborn; D007621:Karyotyping; D050498:Live Birth; D008297:Male; D011247:Pregnancy; D019836:Preimplantation Diagnosis / Q000379:methods*; D020554:Sperm Injections, Intracytoplasmic; D014178:Translocation, Genetic