title: Clinical and molecular characterization of a patient with Langer-Giedion syndrome and mosaic del(8)(q22.3q24.13).
abstract: The tricho-rhino-phalangeal syndrome type II (TRPS II) is characterized by sparse scalp hair, a long nose with a bulbous tip, a long flat philtrum, cone-shaped epiphyses of the phalanges, retarded bone age in infancy and multiple cartilaginous exostoses. All patients have a hemizygous deletion on chromosome 8q23.3-24.11 which spans at least the 2.8 Mb-region from TRPS1 through EXT1. Only patients with deletions that extend beyond this interval tend to have mental retardation. Here we describe a 14.5-year-old girl with mental retardation and TRPS II. Her facial features are only mild, but she has the typical skeletal features including cone-shaped epiphyses at the phalanges, retarded bone age, multiple exostoses and short stature. She is the first patient with TRPS II and a molecularly proven mosaic interstitial deletion in 8q22.3-q24.13. The deletion is one of the largest ever found in TRPS II, and spans 19.79 Mb and 50 genes or loci including TRPS1 and EXT1. The degree of mosaicism is 7% in lymphocytes from peripheral blood and 97% in skin fibroblasts.
authors.affiliation: The Center for Craniofacial Disorders, Children's Hospital at Montefiore, Albert Einstein College of Medicine, Bronx, New York 10467, USA. ashanske@aol.com
authors.forename: Alan L
authors.initials: AL
authors.lastname: Shanske
authors.forename: Ankita
authors.initials: A
authors.lastname: Patel
authors.forename: Sou
authors.initials: S
authors.lastname: Saukam
authors.forename: Brynn
authors.initials: B
authors.lastname: Levy
authors.forename: Hermann-Josef
authors.initials: HJ
authors.lastname: Lüdecke
mesh_terms: D000293:Adolescent; D001842:Bone and Bones / Q000002:abnormalities / Q000000981:diagnostic imaging; D002648:Child; D002872:Chromosome Deletion; D002898:Chromosomes, Human, Pair 8 / Q000235:genetics*; D005260:Female; D006801:Humans; D015826:Langer-Giedion Syndrome / Q000235:genetics* / Q000473:pathology*; D009030:Mosaicism; D011859:Radiography