title: Automated fluorescent genotyping detects 10% of cryptic subtelomeric rearrangements in idiopathic syndromic mental retardation.
abstract: Recent studies have shown that cryptic unbalanced subtelomeric rearrangements contribute to a significant proportion of idiopathic syndromic mental retardation cases. Using a fluorescent genotyping based strategy, we found a 10% rate of cryptic subtelomeric rearrangements in a large series of 150 probands with severe idiopathic syndromic mental retardation and normal RHG-GTG banded karyotype. Fourteen children were found to carry deletions or duplications of one or more chromosome telomeres and two children had uniparental disomy. This study clearly shows that fluorescent genotyping is a sensitive and cost effective method that not only detects cryptic subtelomeric rearrangements but also provides a unique opportunity to detect uniparental disomies. We suggest giving consideration to systematic examination of subtelomeric regions in the diagnostic work up of patients with unexplained syndromic mental retardation.
authors.affiliation: Unité de Recherches sur les Handicaps Génétiques de l'Enfant, INSERM U-393, et Département de Génétique, Hôpital Necker-Enfants Malades, Paris, France.
authors.forename: M
authors.initials: M
authors.lastname: Rio
authors.forename: F
authors.initials: F
authors.lastname: Molinari
authors.forename: S
authors.initials: S
authors.lastname: Heuertz
authors.forename: C
authors.initials: C
authors.lastname: Ozilou
authors.forename: P
authors.initials: P
authors.lastname: Gosset
authors.forename: O
authors.initials: O
authors.lastname: Raoul
authors.forename: V
authors.initials: V
authors.lastname: Cormier-Daire
authors.forename: J
authors.initials: J
authors.lastname: Amiel
authors.forename: S
authors.initials: S
authors.lastname: Lyonnet
authors.forename: M
authors.initials: M
authors.lastname: Le Merrer
authors.forename: C
authors.initials: C
authors.lastname: Turleau
authors.forename: M-C
authors.initials: MC
authors.lastname: de Blois
authors.forename: M
authors.initials: M
authors.lastname: Prieur
authors.forename: S
authors.initials: S
authors.lastname: Romana
authors.forename: M
authors.initials: M
authors.lastname: Vekemans
authors.forename: A
authors.initials: A
authors.lastname: Munnich
authors.forename: L
authors.initials: L
authors.lastname: Colleaux
mesh_terms: D002648:Child; D002872:Chromosome Deletion; D002874:Chromosome Mapping / Q000191:economics / Q000379:methods; D020090:Chromosome Segregation / Q000235:genetics; D005260:Female; D005456:Fluorescent Dyes; D020440:Gene Duplication; D015321:Gene Rearrangement / Q000235:genetics*; D005820:Genetic Testing / Q000379:methods; D005838:Genotype; D006801:Humans; D017404:In Situ Hybridization, Fluorescence / Q000379:methods; D008607:Intellectual Disability / Q000209:etiology / Q000235:genetics*; D008297:Male; D018895:Microsatellite Repeats / Q000235:genetics; D010375:Pedigree; D011110:Polymorphism, Genetic / Q000235:genetics; D012680:Sensitivity and Specificity; D013577:Syndrome; D016615:Telomere / Q000235:genetics*; D024182:Uniparental Disomy / Q000235:genetics
chemical_list: D005456:Fluorescent Dyes