| Autor: |
Di Gregorio, Eleonora, Gai, Giorgia, Botta, Giovanni, Calcia, alessandro, Pappi, Patrizia, Talarico, Flavia, Savin, Elisa, Ribotta, Marisa, Zonta, andrea, Mancini, Cecilia, Giorgio, Elisa, Cavalieri, Simona, Restagno, Gabriella, Ferrero, Giovanni B., Viora, Elsa, Pasini, Barbara, Grosso, Enrico, Brusco, alfredo, Brussino, alessandro |
| Předmět: |
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| Zdroj: |
Cytogenetic & Genome Research; Feb2016, Vol. 147 Issue 1, p10-16, 7p, 1 Chart |
| Abstrakt: |
Karyotyping and aCGH are routinely used to identify genetic determinants of major congenital malformations (MCMs) in fetal deaths or terminations of pregnancy after prenatal diagnosis. Pathogenic rearrangements are found with a variable rate of 9-39% for aCGH. We collected 33 fetuses, 9 with a single MCM and 24 with MCMs involving 2-4 organ systems. aCGH revealed copy number variants in 14 out of 33 cases (42%). Eight were classified as pathogenic which account for a detection rate of 24% (8/33) considering fetuses with 1 or more MCMs and 33% (8/24) taking into account fetuses with multiple malformations only. Three of the pathogenic variants were known microdeletion syndromes (22q11.21 deletion, central chromosome 22q11.21 deletion, and TAR syndrome) and 5 were large rearrangements, adding up to >11 Mb per subject and comprising strong phenotype-related genes. One of those was a de novo complex rearrangement, and the remaining 4 duplications and 2 deletions were 130-900 kb in size, containing 1-7 genes, and were classified as variants of unknown clinical significance. Our study confirms aCGH as a powerful technique to ascertain the genetic etiology of fetal major congenital malformations. © 2015 S. Karger AG, Basel [ABSTRACT FROM AUTHOR] |
| Databáze: |
Complementary Index |
| Externí odkaz: |
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