Artículos de revistas
Prenatal Genomic Profiling Of Abdominal Wall Defects Through Comparative Genomic Hybridization: Perspectives For A New Diagnostic Tool.
Registro en:
Fetal Diagnosis And Therapy. v. 22, n. 5, p. 361-4, 2007.
1421-9964
10.1159/000103297
17556825
Autor
Heinrich, Juliana Karina Ruiz
Machado, Isabela Nelly
Vivas, Luciana
Bianchi, Maria Otília
Cursino Andrade, Kleber
Sbragia, Lourenço
Barini, Ricardo
Institución
Resumen
To describe the molecular analysis through comparative genomic hybridization (CGH) of fetuses with gastroschisis, and to observe if this technique could improve the resolution of the conventional cytogenetic techniques. Amniotic analysis of fetuses with gastroschisis, using both conventional (G-banding) and molecular (CGH) cytogenetics assays. All of the seven fetuses studied displayed a normal G-band karyotype. Six fetuses displayed a normal disomic profile through CGH and one sample has displayed ish cgh enh 3q26-->qter result (ICSN). The fetus with this imbalance of chromosome 3 was re-classified as a ruptured omphalocele, instead of gastroschisis, after birth. The molecular investigation through CGH technique can improve the resolution of the conventional karyotye analysis in cases of abdominal wall defects. 22 361-4