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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
Language English Country Netherlands
Document type Case Reports, Journal Article
NLK
Free Medical Journals
from 2008 to 1 year ago
PubMed Central
from 1997 to 1 year ago
Europe PubMed Central
from 1997 to 1 year ago
ProQuest Central
from 1999-01-01 to 1 year ago
Health & Medicine (ProQuest)
from 1999-01-01 to 1 year ago
Public Health Database (ProQuest)
from 1999-01-01 to 1 year ago
- MeSH
- Chromosome Aberrations MeSH
- Adult MeSH
- Twins, Monozygotic genetics MeSH
- Sperm Injections, Intracytoplasmic MeSH
- Humans MeSH
- Chromosomes, Human, Pair 13 MeSH
- Mosaicism MeSH
- Preimplantation Diagnosis MeSH
- Single Embryo Transfer MeSH
- Pregnancy MeSH
- Check Tag
- Adult MeSH
- Humans MeSH
- Pregnancy MeSH
- Female MeSH
- Publication type
- Journal Article MeSH
- Case Reports 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
References provided by Crossref.org
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