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The tricho-rhino-phalangeal syndromes: frequency and parental origin of 8q deletions

✍ Scribed by Judith Nardmann; Lisbeth Tranebjærg; Bernhard Horsthemke; H.-J. Lüdecke


Book ID
106136637
Publisher
Springer
Year
1997
Tongue
English
Weight
229 KB
Volume
99
Category
Article
ISSN
0340-6717

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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. 📂 Article 📅 1989 🏛 John Wiley and Sons 🌐 English ⚖ 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)