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Monozygotic twins with discordant karyotypes following preimplantation genetic screening and single embryo transfer: case report
G. Tauwinklova, R. Gaillyova, P. Travnik, E. Oracova, K. Vesela, L. Hromadova, J. Vesely, P. Musilova, J. Rubes, J. Kadlecova, I. Slamova, E. Makaturova, V. Vranova
Jazyk angličtina Země Nizozemsko
Typ dokumentu kazuistiky, časopisecké články
NLK
Free Medical Journals
od 2008 do Před 1 rokem
PubMed Central
od 1997 do Před 1 rokem
Europe PubMed Central
od 1997 do Před 1 rokem
ProQuest Central
od 1999-01-01 do Před 1 rokem
Health & Medicine (ProQuest)
od 1999-01-01 do Před 1 rokem
Public Health Database (ProQuest)
od 1999-01-01 do Před 1 rokem
- MeSH
- chromozomální aberace MeSH
- dospělí MeSH
- dvojčata monozygotní genetika MeSH
- intracytoplazmatické injekce spermie MeSH
- lidé MeSH
- lidské chromozomy, pár 13 MeSH
- mozaicismus MeSH
- preimplantační diagnóza MeSH
- přenos jednoho embrya MeSH
- těhotenství MeSH
- Check Tag
- dospělí MeSH
- lidé MeSH
- těhotenství MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- kazuistiky MeSH
PURPOSE: to report a case of monozygotic monochorial diamniotic twins with discordant karyotypes. METHODS AND RESULTS: 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. CONCLUSIONS: 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.
Department of Medical Genetics Laboratory of Molecular Cytogenetics University Hospital
Citace poskytuje Crossref.org
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