Cytogenetic and molecular evaluation of 241 small supernumerary marker chromosomes: Cooperative study of 19 Italian laboratories

We evaluated the experiences of 19 Italian laboratories concerning 241 small supernumerary marker chromosomes (sSMCs) with the aim of answering questions arising from their origin from any chromosome, their variable size and genetic content, and their impact on the carrier's phenotype. Conventi...

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Published in:	Genetics in medicine Vol. 7; no. 9; pp. 620 - 625
Main Authors:	Dalprà, Leda, Giardino, Daniela, Finelli, Palma, Corti, Cecilia, Valtorta, Chiara, Guerneri, Silvana, Ilardi, Patrizia, Fortuna, Renato, Coviello, Domenico, Nocera, Gianfranco, Amico, Francesco Paolo, Martinoli, Emanuela, Sala, Elena, Villa, Nicoletta, Crosti, Francesca, Chiodo, Francamaria, di Cantogno, Ludovica Verdun, Savin, Elisa, Croci, Gianfranco, Franchi, Fabrizia, Venti, Giovanna, Donti, Emilio, Migliori, Valeria, Pettinari, Antonella, Bonifacio, Stefania, Centrone, Claudia, Torricelli, Francesca, Rossi, Simona, Simi, Paolo, Granata, Paola, Casalone, Rosario, Lenzini, Elisabetta, Artifoni, Lina, Pecile, Vanna, Barlati, Sergio, Bellotti, Daniela, Caufin, Daniele, Police, Adalgisa, Cavani, Simona, Piombo, Giuseppe, Pierluigi, Mauro, Larizza, Lidia
Format:	Journal Article
Language:	English
Published:	United States Elsevier Inc 01-11-2005
Subjects:	Chromosome Aberrations cooperative study genetic counseling Genetic Testing - methods genotype–phenotype correlations Humans In Situ Hybridization, Fluorescence Inheritance Patterns - genetics Italy Phenotype prenatal diagnosis supernumerary marker chromosomes Italy supernumerary marker chromosomes genetic counseling cooperative study prenatal diagnosis genotype–phenotype correlations
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Summary:	We evaluated the experiences of 19 Italian laboratories concerning 241 small supernumerary marker chromosomes (sSMCs) with the aim of answering questions arising from their origin from any chromosome, their variable size and genetic content, and their impact on the carrier's phenotype. Conventional protocols were used to set up the cultures and chromosome preparations. Both commercial and homemade probes were used for the fluorescent in situ hybridization analyses. A total of 113 of the 241 sSMCs were detected antenatally, and 128 were detected postnatally. There were 52 inherited and 172 de novo cases. Abnormal phenotype was present in 137 cases (57%), 38 of which were antenatally diagnosed. A mosaic condition was observed in 87 cases (36%). In terms of morphology, monocentric and dicentric bisatellited marker chromosomes were the most common, followed by monocentric rings and short-arm isochromosomes. The chromosomes generating the sSMCs were acrocentric in 132 cases (69%) and non-acrocentric chromosomes in 60 cases (31%); a neocentromere was hypothesized in three cases involving chromosomes 6, 8, and 15. The presented and published data still do not allow any definite conclusions to be drawn concerning karyotype–phenotype correlations. Only concerted efforts to characterize molecularly the sSMCs associated or not with a clinical phenotype can yield results suitable for addressing karyotype–phenotype correlations in support of genetic counseling.
Bibliography:	ObjectType-Article-1 SourceType-Scholarly Journals-1 ObjectType-Feature-2 content type line 23
ISSN:	1098-3600 1530-0366
DOI:	10.1097/01.gim.0000182876.57766.2d