Genotype–phenotype correlation in 13q13.3–q21.3 deletion

Abstract Pure interstitial deletions of the long arm of chromosome 13 are correlated with variable phenotypes according to the size and the location of the deleted region. Deletions involving the 13q13q21 region are rare. In order to establish interstitial 13q genotype–phenotype correlation, we used...

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Veröffentlicht in:	European journal of medical genetics 2011-09, Vol.54 (5), p.e489-e494
Hauptverfasser:	Tosca, Lucie, Brisset, Sophie, Petit, François M, Metay, Corinne, Latour, Stéphanie, Lautier, Benoît, Lebas, Axel, Druart, Luc, Picone, Olivier, Mas, Anne-Elisabeth, Prévot, Sophie, Tardieu, Marc, Goossens, Michel, Tachdjian, Gérard
Format:	Artikel
Sprache:	eng
Schlagworte:	Adult Child, Preschool Chromosome 13 Chromosome Deletion Chromosome Disorders - genetics Chromosomes, Human, Pair 13 - genetics Comparative Genomic Hybridization Female Fetus Genetic Association Studies Genotype–phenotype correlation Humans In Situ Hybridization, Fluorescence Infant Interstitial deletion Karyotyping Medical Education Microsatellite Repeats - genetics Oligonucleotide array-CGH Phenotype Pregnancy Prenatal Diagnosis Young Adult
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