Molecular characterization of 39 de novo sSMC: contribution to prognosis and genetic counselling, a prospective study.

Détails

ID Serval
serval:BIB_4185500E191A
Type
Article: article d'un périodique ou d'un magazine.
Collection
Publications
Titre
Molecular characterization of 39 de novo sSMC: contribution to prognosis and genetic counselling, a prospective study.
Périodique
Clinical Genetics
Auteur(s)
Marle N., Martinet D., Aboura A., Joly-Helas G., Andrieux J., Flori E., Puechberty J., Vialard F., Sanlaville D., Fert Ferrer S., Bourrouillou G., Tabet A.C., Quilichini B., Simon-Bouy B., Bazin A., Becker M., Stora H., Amblard S., Doco-Fenzy M., Molina Gomes D., Girard-Lemaire F., Cordier M.P., Satre V., Schneider A., Lemeur N., Chambon P., Jacquemont S., Fellmann F., Vigouroux-Castera A., Molignier R., Delaye A., Pipiras E., Liquier A., Rousseau T., Mosca A.L., Kremer V., Payet M., Rangon C., Mugneret F., Aho S., Faivre L., Callier P.
ISSN
1399-0004 (Electronic)
ISSN-L
0009-9163
Statut éditorial
Publié
Date de publication
2014
Peer-reviewed
Oui
Volume
85
Numéro
3
Pages
233-244
Langue
anglais
Notes
Publication types: Journal Article Publication Status: ppublish
Résumé
Small supernumerary marker chromosomes (sSMCs) are structurally abnormal chromosomes that cannot be characterized by karyotype. In many prenatal cases of de novo sSMC, the outcome of pregnancy is difficult to predict because the euchromatin content is unclear. This study aimed to determine the presence or absence of euchromatin material of 39 de novo prenatally ascertained sSMC by array-comparative genomic hybridization (array-CGH) or single nucleotide polymorphism (SNP) array. Cases were prospectively ascertained from the study of 65,000 prenatal samples [0.060%; 95% confidence interval (CI), 0.042-0.082]. Array-CGH showed that 22 markers were derived from non-acrocentric markers (56.4%) and 7 from acrocentic markers (18%). The 10 additional cases remained unidentified (25.6%), but 7 of 10 could be further identified using fluorescence in situ hybridization; 69% of de novo sSMC contained euchromatin material, 95.4% of which for non-acrocentric markers. Some sSMC containing euchromatin had a normal phenotype (31% for non-acrocentric and 75% for acrocentric markers). Statistical differences between normal and abnormal phenotypes were shown for the size of the euchromatin material (more or less than 1 Mb, p = 0.0006) and number of genes (more or less than 10, p = 0.0009). This study is the largest to date and shows the utility of array-CGH or SNP array in the detection and characterization of de novo sSMC in a prenatal context.
Pubmed
Web of science
Création de la notice
07/03/2014 18:52
Dernière modification de la notice
03/03/2018 16:33
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