title: A submicroscopic unbalanced subtelomeric translocation t(2p;10q) identified by fluorescence in situ hybridization: fetus with increased nuchal translucency and normal standard karyotype with later growth and developmental delay, rhombencephalosynapsis (RES).
abstract: Reaching an accurate diagnosis in children with mental retardation associated or not with dysmorphic signs is important to make precise diagnosis of a syndrome and for genetic counseling. A female case with severe growth and development delay, dysmorphic features and feeding disorder is presented. Antenataly, the fetus was observed to have increased nuchal translucency and a slight hypoplastic cerebellum. A standard karyotype was normal. RES and a submicroscopic unbalanced subtelomeric translocation t(2p; 10q) were demonstrated after birth. We show that within the framework of a collaborative approach, a concerted research of submicroscopic subtelomeric rearrangements should be performed in case of mental retardation associated with facial dysmorphic features, and when other etiologies or non-genetic factors (iatrogenic, toxic, infectious, metabolic...) have been ruled out.
authors.affiliation: Cytogenetic Laboratory, General Hospital, BP 1125, 73011 Chambéry cedex, France. james.lespinasse@ch-chambery.rss.fr <james.lespinasse@ch-chambery.rss.fr>
authors.forename: J
authors.initials: J
authors.lastname: Lespinasse
authors.forename: H
authors.initials: H
authors.lastname: Testard
authors.forename: F
authors.initials: F
authors.lastname: Nugues
authors.forename: M
authors.initials: M
authors.lastname: Till
authors.forename: M P
authors.initials: MP
authors.lastname: Cordier
authors.forename: M
authors.initials: M
authors.lastname: Althuser
authors.forename: F
authors.initials: F
authors.lastname: Amblard
authors.forename: S
authors.initials: S
authors.lastname: Fert-Ferrer
authors.forename: C
authors.initials: C
authors.lastname: Durand
authors.forename: F
authors.initials: F
authors.lastname: Dalmon
authors.forename: C
authors.initials: C
authors.lastname: Pourcel
authors.forename: P S
authors.initials: PS
authors.lastname: Jouk
mesh_terms: D002531:Cerebellum / Q000002:abnormalities; D002657:Child Development; D002675:Child, Preschool; D002871:Chromosome Banding; D025063:Chromosome Disorders / Q000235:genetics*; D002879:Chromosomes, Human, Pair 10; D002889:Chromosomes, Human, Pair 2; D001068:Feeding and Eating Disorders / Q000235:genetics; D005260:Female; D005333:Fetus / Q000002:abnormalities; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D008607:Intellectual Disability / Q000097:blood / Q000235:genetics*; D007621:Karyotyping; D008279:Magnetic Resonance Imaging; D048208:Nuchal Translucency Measurement; D012249:Rhombencephalon / Q000002:abnormalities*; D016615:Telomere / Q000235:genetics; D014178:Translocation, Genetic