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Statements

Subject Item
n2:RIV%2F00216224%3A14310%2F10%3A00052164%21RIV12-MSM-14310___
rdf:type
skos:Concept n15:Vysledek
dcterms: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.
dcterms: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
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
skos:notation
RIV/00216224:14310/10:00052164!RIV12-MSM-14310___
n3:aktivita
n9:Z n9:S
n3:aktivity
S, Z(MZE0002716202)
n3:cisloPeriodika
11
n3:dodaniDat
n17:2012
n3:domaciTvurceVysledku
n12:8431450 n12:9243682
n3:druhVysledku
n13:J
n3:duvernostUdaju
n10:S
n3:entitaPredkladatele
n16:predkladatel
n3:idSjednocenehoVysledku
272575
n3:idVysledku
RIV/00216224:14310/10:00052164
n3:jazykVysledku
n14:eng
n3:klicovaSlova
Monozygotic twins; Preimplantation Genetic Screening (PGS); Apoptosis; Ring chromosome
n3:klicoveSlovo
n5:Ring%20chromosome n5:Preimplantation%20Genetic%20Screening%20%28PGS%29 n5:Apoptosis n5:Monozygotic%20twins
n3:kodStatuVydavatele
CZ - Česká republika
n3:kontrolniKodProRIV
[3C5F07D031CE]
n3:nazevZdroje
J. Assist. Reprod. Genetics
n3:obor
n18:EB
n3:pocetDomacichTvurcuVysledku
2
n3:pocetTvurcuVysledku
13
n3:rokUplatneniVysledku
n17:2010
n3:svazekPeriodika
27
n3:tvurceVysledku
Veselá, Kateřina Veselý, Jan Vranová, Vladimíra Musilová, Petra Gaillyová, Renata Kadlecová, Jitka Hromadová, Lenka Trávník, Pavel Tauwinklová, Gabriela Rubeš, Jiří Makaturová, Eva Slámová, Iva Oráčová, Eva
n3:zamer
n8:MZE0002716202
s:issn
1058-0468
s:numberOfPages
7
n7:organizacniJednotka
14310