title: Screening for subtelomeric rearrangements using automated fluorescent genotyping of microsatellite markers: a Lebanese study.
abstract: A screening for submicroscopic rearrangements using specific polymorphic microsatellite markers from the subtelomeric regions of all chromosome arms was performed in 34 independent Lebanese families, including 45 patients with idiopathic mental retardation plus additional features. Five cryptic rearrangements were found in five different families, but subsequent FISH studies confirmed only three of those, showing a proportion of nearly 9% of subtelomeric rearrangements in our population. Two patients presented a de novo deletion from paternal origin, one involving telomere 3p, and another telomere 7p. An unbalanced paternally inherited translocation was detected in two patients from the same family resulting in both trisomy for telomere 5q and monosomy for telomere 6p.
authors.affiliation: Unité de Génétique Médicale, Laboratoire de Biologie Moléculaire et Cytogénétique, Faculté de Médecine, Université Saint-Joseph, Beirut, Lebanon.
authors.forename: Valérie
authors.initials: V
authors.lastname: Delague
authors.forename: Myrna
authors.initials: M
authors.lastname: Souaid
authors.forename: Eliane
authors.initials: E
authors.lastname: Chouery
authors.forename: Danielle
authors.initials: D
authors.lastname: Depetris
authors.forename: Damien
authors.initials: D
authors.lastname: Sanlaville
authors.forename: Marie-Geneviève
authors.initials: MG
authors.lastname: Mattei
authors.forename: André
authors.initials: A
authors.lastname: Mégarbané
mesh_terms: D002648:Child; D002675:Child, Preschool; D002869:Chromosome Aberrations; D002872:Chromosome Deletion; D005260:Female; D005838:Genotype; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007231:Infant, Newborn; D007861:Lebanon; D008297:Male; D018895:Microsatellite Repeats / Q000235:genetics*; D009006:Monosomy; D016615:Telomere / Q000235:genetics*; D014314:Trisomy