A final word on the tricho-rhino-phalangeal syndromes
| Autor: | E. M. Bühler, R. Fessler, C. Beutler, U. K. Bühler |
|---|---|
| Rok vydání: | 2008 |
| Předmět: |
Male
congenital hereditary and neonatal diseases and abnormalities Nose Biology Bone and Bones Langer–Giedion syndrome Facial deformity Genetics medicine Humans Tricho–rhino–phalangeal syndrome Abnormalities Multiple Child Genetics (clinical) Growth retardation Syndrome type Mosaicism Syndrome medicine.disease Osteochondrodysplasia Trichorhinophalangeal syndrome Chromosome Deletion Word (group theory) Chromosomes Human Pair 8 Hair |
| Zdroj: | Clinical Genetics. 31:273-275 |
| ISSN: | 1399-0004 0009-9163 |
| DOI: | 10.1111/j.1399-0004.1987.tb02806.x |
| Popis: | Chromosomal findings in the majority of cases of TRP II (or Langer-Giedion) syndrome and in some cases of TRP I syndrome lead to the conclusion that the former is due to a deletion extending from 8q24.11 to 8q24.13 whereas the latter is caused by an even smaller deleted segment, namely 8q24.12. A case of tricho-rhino-phalangeal syndrome type I with a mosaic deletion of band 8q24.12 is described. |
| Databáze: | OpenAIRE |
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