title: Interstitial deletion of the proximal region of the long arm of chromosome 18, del(18q12) a distinct clinical entity? A report of two new cases.
abstract: Two unrelated mentally retarded patients were found to have an interstitial deletion of 18q12. They were a 2-year-old, short, macrocephalic and autistic girl, and a 5-year-old boy. Six other liveborn patients with comparable deletion have been so far identified. The common findings are mild dysmorphic features (telecanthus, epicanthal folds, flaring eyebrows, small mouth with thin upper lip), hypotonia, behavioural disorders, mental retardation with speech delay and lack of major malformation.
authors: Centre de Transfusion Sanguine et d'Hématologie de Versailles, Le Chesnay, France.
authors: M
authors: M
authors: Poissonnier
authors: C
authors: C
authors: Turleau
authors: M
authors: M
authors: Olivier-Martin
authors: M J
authors: MJ
authors: Milleret-Proyart
authors: M
authors: M
authors: Prieur
authors: M
authors: M
authors: Dubos
authors: M O
authors: MO
authors: Cabanis
authors: F
authors: F
authors: Mugneret
authors: P
authors: P
authors: Blanc
authors: L
authors: L
authors: Noel
mesh_terms: D002675:Child, Preschool; D002871:Chromosome Banding; D002872:Chromosome Deletion; D002887:Chromosomes, Human, Pair 18; D005147:Facial Bones / Q000002:abnormalities*; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D007621:Karyotyping; D008297:Male; D010375:Pedigree; D012886:Skull / Q000002:abnormalities*