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- Title
Preimplantation genetic diagnosis of DiGeorge syndrome.
- Authors
Iwarsson, E; Iwarsson, E.; Ahrlund-Richter, L; Ahrlund-Richter, L.; Inzunza, J; Inzunza, J.; Fridstrom, M; Fridstrom, M.; Rosenlund, B; Rosenlund, B.; Hillensjo, T; Hillensjo, T.; Sjoblom, P; Sjoblom, P.; Nordenskjold, M; Nordenskjold, M.; Blennow, E; Blennow, E.
- Abstract
Reports on the first case of preimplantation genetic diagnosis used in order to avoid chromosomal imbalance in the progeny of a woman mildly affected by DiGeorge syndrome and carrier of a microdeletion of chromosome 22q11.2. Analysis using fluorescent in-situ hybridization (FISH); Embryo transplant procedure; Percentage of transmitting the 22q11.2 detection.
- Subjects
PREIMPLANTATION genetic diagnosis; CHROMOSOME abnormalities; FLUORESCENCE in situ hybridization; DIAGNOSIS
- Publication
Molecular Human Reproduction, 1998, Vol 4, Issue 9
- ISSN
1360-9947
- Publication type
Article
- DOI
10.1093/molehr/4.9.871