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. J. Assist. Reprod. Genetics. USA, 2010, vol. 27, No 11, p. 649-655. ISSN 1058-0468.
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Basic information
Original name Monozygotic twins with discordant karyotypes following preimplantation genetic screening and single embryo transfer: case report
Authors TAUWINKLOVÁ, Gabriela (203 Czech Republic), Renata GAILLYOVÁ (203 Czech Republic), Pavel TRÁVNÍK (203 Czech Republic), Eva ORÁČOVÁ (203 Czech Republic), Kateřina VESELÁ (203 Czech Republic), Lenka HROMADOVÁ (203 Czech Republic), Jan VESELÝ (203 Czech Republic), Petra MUSILOVÁ (203 Czech Republic), Jiří RUBEŠ (203 Czech Republic, guarantor), Jitka KADLECOVÁ (203 Czech Republic), Iva SLÁMOVÁ (203 Czech Republic, belonging to the institution), Eva MAKATUROVÁ (203 Czech Republic) and Vladimíra VRANOVÁ (703 Slovakia, belonging to the institution).
Edition J. Assist. Reprod. Genetics, USA, 2010, 1058-0468.
Other information
Original language English
Type of outcome Article in a journal
Field of Study Genetics and molecular biology
Country of publisher Czech Republic
Confidentiality degree is not subject to a state or trade secret
Impact factor Impact factor: 1.253
RIV identification code RIV/00216224:14310/10:00052164
Organization unit Faculty of Science
UT WoS 000284550600009
Keywords in English Monozygotic twins; Preimplantation Genetic Screening (PGS); Apoptosis; Ring chromosome
Tags AKb, rivok
Tags International impact, Reviewed
Changed by Changed by: prof. MUDr. Pavel Trávník, DrSc., učo 32618. Changed: 12/10/2015 12:46.
Abstract
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.
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