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  3. Prenatal study of common submicroscopic "genomic disorders" using MLPA with subtelomeric/microdeletion syndrome probe mixes, among gestations with ultrasound abnormalities in the first trimester.

Prenatal study of common submicroscopic "genomic disorders" using MLPA with subtelomeric/microdeletion syndrome probe mixes, among gestations with ultrasound abnormalities in the first trimester.

Fecha de publicación:

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

EUROPEAN JOURNAL OF MEDICAL GENETICS  ELSEVIER SCIENCE BV

Tipo:
Article
Páginas:
76-79
PubMed:
20004752
Factor de Impacto:
1,329 SCImago ℠
Cuartil:
Q1 SCImago ℠

Citas Recibidas en Web of Science: 7

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