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@article{935090, author = {Tauwinklová, Gabriela and Gaillyová, Renata and Trávník, Pavel and Oráčová, Eva and Veselá, Kateřina and Hromadová, Lenka and Veselý, Jan and Musilová, Petra and Rubeš, Jiří and Kadlecová, Jitka and Slámová, Iva and Makaturová, Eva and Vranová, Vladimíra}, article_location = {USA}, article_number = {11}, keywords = {Monozygotic twins; Preimplantation Genetic Screening (PGS); Apoptosis; Ring chromosome}, language = {eng}, issn = {1058-0468}, journal = {J. Assist. Reprod. Genetics}, title = {Monozygotic twins with discordant karyotypes following preimplantation genetic screening and single embryo transfer: case report}, volume = {27}, year = {2010} }
TY - JOUR ID - 935090 AU - Tauwinklová, Gabriela - Gaillyová, Renata - Trávník, Pavel - Oráčová, Eva - Veselá, Kateřina - Hromadová, Lenka - Veselý, Jan - Musilová, Petra - Rubeš, Jiří - Kadlecová, Jitka - Slámová, Iva - Makaturová, Eva - Vranová, Vladimíra PY - 2010 TI - Monozygotic twins with discordant karyotypes following preimplantation genetic screening and single embryo transfer: case report JF - J. Assist. Reprod. Genetics VL - 27 IS - 11 SP - 649-655 EP - 649-655 SN - 10580468 KW - Monozygotic twins KW - Preimplantation Genetic Screening (PGS) KW - Apoptosis KW - Ring chromosome N2 - To report a case of monozygotic monochorial diamniotic twins with discordant karyotypes. The pregnancy was achieved following a treatment cycle with intracytoplasmic sperm injection (ICSI) and preimplantation genetic screening (PGS) for chromosomes X, Y, 13, 16, 18, 21, 22. One embryo euploid for studied chromosomes was transferred. Prenatal ultrasonography revealed monozygotic twins. One fetus had growth retardation, multiple organ abnormalities and polyhydramnion. The other twin had normal ultrasound appearance. Delivery on week 29 of gestation resulted in the birth of two females, a stillborn twin with karyotype 45,XX,-13[12]/46,XX,r(13)[3] and a healthy twin with normal karyotype. The discordance in the twins' karyotypes originated from a mosaic embryo. Structural chromosomal abnormality of the affected twin could not be revealed using standard PGS investigation. Embryo splitting occurred probably due to apoptotic process in an early stage of embryo development. Apoptosis represents one of the possible mechanisms which can explain the embryo twinning process globally. ER -
TAUWINKLOVÁ, Gabriela, Renata GAILLYOVÁ, Pavel TRÁVNÍK, Eva ORÁČOVÁ, Kateřina VESELÁ, Lenka HROMADOVÁ, Jan VESELÝ, Petra MUSILOVÁ, Jiří RUBEŠ, Jitka KADLECOVÁ, Iva SLÁMOVÁ, Eva MAKATUROVÁ and Vladimíra VRANOVÁ. Monozygotic twins with discordant karyotypes following preimplantation genetic screening and single embryo transfer: case report. \textit{J. Assist. Reprod. Genetics}. USA, 2010, vol.~27, No~11, p.~649-655. ISSN~1058-0468.
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