Portal de investigación
Prenatal study of common submicroscopic "genomic disorders" using MLPA with subtelomeric/microdeletion syndrome probe mixes, among gestations with ultrasound abnormalities in the first trimester.
Autores de IIS La Fe
Participantes ajenos a IIS La Fe
- Gonzalvo M
- Benac A
Abstract
The present study aims to investigate the presence of common submicroscopic chromosomal rearrangements in fetuses with ultrasound abnormalities or positive screening in the first trimester and normal karyotype. We used the multiplex ligation-dependent probe amplification (MLPA) technique with subtelomeric (SALSA P036B) and microdeletion syndrome (SALSA P064B/P096) probe mixes as a screening method to measure copy number changes on the tested probes in chorionic villus sampling. MLPA with P036B and P064/P096 probe mixes was performed on 49 chorionic villi DNA samples obtained between the 11th and 13th week of gestation.
Datos de la publicación
- ISSN/ISSNe:
- 1769-7212, 1878-0849
- Tipo:
- Article
- Páginas:
- 76-79
- PubMed:
- 20004752
- Factor de Impacto:
- 1,329 SCImago ℠
- Cuartil:
- Q1 SCImago ℠
EUROPEAN JOURNAL OF MEDICAL GENETICS ELSEVIER SCIENCE BV
Citas Recibidas en Web of Science: 7
Documentos
- No hay documentos
Filiaciones
Cita
ROSELLÓ M,FERRER I,MONFORT S,OLTRA S,QUIROGA R,MARTÍNEZ F,Gonzalvo M,Benac A,PERALES A,ORELLANA C. Prenatal study of common submicroscopic "genomic disorders" using MLPA with subtelomeric/microdeletion syndrome probe mixes, among gestations with ultrasound abnormalities in the first trimester. Eur. J. Med. Genet. 2010. 53. (2):p. 76-79. IF:2,335. (3).