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| Content Provider | World Health Organization (WHO)-Global Index Medicus |
|---|---|
| Author | Shanske, Alan L. Patel, Ankita Saukam, Sou Levy, Brynn Lüdecke, Hermann-Josef |
| Description | Country affiliation: United States Author Affiliation: Shanske AL ( The Center for Craniofacial Disorders, Children's Hospital at Montefiore, Albert Einstein College of Medicine, Bronx, New York 10467, USA. ashanske@aol.com) |
| 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. |
| File Format | HTM / HTML |
| ISSN | 15524825 |
| Issue Number | 24 |
| Volume Number | 146A |
| e-ISSN | 15524833 |
| Journal | American Journal of Medical Genetics Part A |
| Language | English |
| Publisher | Wiley-Blackwell |
| Publisher Date | 2008-12-15 |
| Publisher Place | United States |
| Access Restriction | One Nation One Subscription (ONOS) |
| Subject Keyword | Discipline Human Discipline Genetics Chromosome Deletion Chromosomes, Human, Pair 8 Genetics Langer-giedion Syndrome Pathology Mosaicism Adolescent Bone And Bones Abnormalities Child Female Humans Radiography Case Reports Journal Article Research Support, Non-u.s. Gov't |
| Content Type | Text |
| Resource Type | Article Case study |
| Subject | Genetics Genetics (clinical) |
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