Diagnosis of Ambras syndrome: Comments on complex cytogenetic rearrangement of chromosome 8q in a case of Ambras syndrome
โ Scribed by Baumeister, F.A.M.
- Publisher
- John Wiley and Sons
- Year
- 2002
- Tongue
- English
- Weight
- 40 KB
- Volume
- 109
- Category
- Article
- ISSN
- 0148-7299
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Here we report on a family with an inherited rearrangement of chromosome 8q, dir ins(8)(q24.1 lq13.3q2 1.13). Individuals with the chromosome abnormality, which does not appear to be associated with deletion of chromosome material, have manifestations of both tricho-rhino-phalangeal syndrome (TRPS)