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Tricho-rhino-phalangeal syndrome without exostoses, with an interstitial deletion of 8q23

✍ Scribed by J. Goldblatt; R. D. Smart


Book ID
115089338
Publisher
John Wiley and Sons
Year
2008
Tongue
English
Weight
412 KB
Volume
29
Category
Article
ISSN
0009-9163

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Tricho-rhino-phalangeal and branchio-oto
✍ Haan, E. A. ;Hull, Y. J. ;White, S. ;Cockington, R. ;Charlton, P. ;Callen, D. F. πŸ“‚ Article πŸ“… 1989 πŸ› John Wiley and Sons 🌐 English βš– 504 KB

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)