About: Monozygotic twins with discordant karyotypes following preimplantation genetic screening and single embryo transfer: case report

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rdf:type	skos:Concept http://linked.opendata.cz/ontology/domain/vavai/Vysledek
Description	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. 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. (en)
Title	Monozygotic twins with discordant karyotypes following preimplantation genetic screening and single embryo transfer: case report Monozygotic twins with discordant karyotypes following preimplantation genetic screening and single embryo transfer: case report (en)
skos:prefLabel	Monozygotic twins with discordant karyotypes following preimplantation genetic screening and single embryo transfer: case report Monozygotic twins with discordant karyotypes following preimplantation genetic screening and single embryo transfer: case report (en)
skos:notation	RIV/00216224:14310/10:00052164!RIV12-MSM-14310___
http://linked.open...avai/riv/aktivita	S Z
http://linked.open...avai/riv/aktivity	S, Z(MZE0002716202)
http://linked.open...iv/cisloPeriodika	11
http://linked.open...vai/riv/dodaniDat	2012
http://linked.open...aciTvurceVysledku	Vranová, Vladimíra Slámová, Iva
http://linked.open.../riv/druhVysledku	J - Článek v odborném periodiku
http://linked.open...iv/duvernostUdaju	S - Úplné a pravdivé údaje nepodléhající ochraně podle zvláštních právních předpisů
http://linked.open...titaPredkladatele	Masarykova univerzita / Přírodovědecká fakulta
http://linked.open...dnocenehoVysledku	272575
http://linked.open...ai/riv/idVysledku	RIV/00216224:14310/10:00052164
http://linked.open...riv/jazykVysledku	eng - angličtina
http://linked.open.../riv/klicovaSlova	Monozygotic twins; Preimplantation Genetic Screening (PGS); Apoptosis; Ring chromosome (en)
http://linked.open.../riv/klicoveSlovo	Monozygotic twins Preimplantation Genetic Screening (PGS) Ring chromosome Apoptosis
http://linked.open...odStatuVydavatele	CZ - Česká republika
http://linked.open...ontrolniKodProRIV	[3C5F07D031CE]
http://linked.open...i/riv/nazevZdroje	J. Assist. Reprod. Genetics
http://linked.open...in/vavai/riv/obor	EB
http://linked.open...ichTvurcuVysledku	2 (xsd:int)
http://linked.open...cetTvurcuVysledku	13 (xsd:int)
http://linked.open...UplatneniVysledku	2010
http://linked.open...v/svazekPeriodika	27
http://linked.open...iv/tvurceVysledku	Gaillyová, Renata Rubeš, Jiří Slámová, Iva Veselý, Jan Vranová, Vladimíra Oráčová, Eva Musilová, Petra Veselá, Kateřina Kadlecová, Jitka Trávník, Pavel Hromadová, Lenka Makaturová, Eva Tauwinklová, Gabriela
http://linked.open...n/vavai/riv/zamer	Animal disease research, prevention and food chain protection
issn	1058-0468
number of pages	7 (xsd:int)
http://localhost/t...ganizacniJednotka	14310

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