Prometaphase chromosomes in the tricho-rhino-phalangeal syndrome type I
β Scribed by Yamamoto, Yoshifumi ;Oguro, Noriko ;Miyao, Masutomo ;Yanagisawa, Masayoshi ;Ohsawa, Tadashi
- Book ID
- 101444976
- Publisher
- John Wiley and Sons
- Year
- 1989
- Tongue
- English
- Weight
- 385 KB
- Volume
- 32
- Category
- Article
- ISSN
- 0148-7299
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A 15-year-old girl with the Langer-Giedion-syndrome (tricho-rhinophalangeal syndrome, type II) is presented. The features are multiple exostoses, sparse, fine hair and an abnormal face and hands. X-ray examination reveals exostoses and abnormal epiphyses. In this case intelligence is normal; there i
The thyroglobulin gene has been mapped to chromosome band 8q24 by several investigators. This is the band implicated in the causation of Langer-Giedion syndrome (tricho-rhino-phalangeal syndrome II). We have examined a restriction fragment length polymorphism at the thyroglobulin locus in a patient