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Tricho-rhino-phalangeal and branchio-oto syndromes in a family with an inherited rearrangement of chromosome 8q

โœ Scribed by Haan, E. A. ;Hull, Y. J. ;White, S. ;Cockington, R. ;Charlton, P. ;Callen, D. F.

Publisher
John Wiley and Sons
Year
1989
Tongue
English
Weight
504 KB
Volume
32
Category
Article
ISSN
0148-7299

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โœฆ Synopsis

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) and branchio-oto syndrome (BOS). TRPS has been linked previously to deletions involving 8q24.1 l+q24.13, but none of the described patients with deletions in this part of 8q have had characteristics of the BOS. The presence of a breakpoint in 8q24.11 without apparent chromosome deletion in the family described suggests that TRPS maps to this band of 8q. Further, it is suggested that BOS maps to either 8q13.3 or 8q21.13.

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Description of a large kindred with auto
Description of a large kindred with autosomal dominant inheritance of branchial arch anomalies, hearing loss, and ear pits, and exclusion of the branchio-oto-renal (BOR) syndrome gene locus (chromosome 8q13.3)
โœ Stratakis, Constantine A.; Lin, Jing Ping; Rennert, Owen M. ๐Ÿ“‚ Article ๐Ÿ“… 1998 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 28 KB ๐Ÿ‘ 2 views

It has been suggested that branchio-oculo-facial (BOF) syndrome, deafness with ear pits, and associated conditions [MIM nos. 125100, 120502], and branchio-oto-renal (BOR) [MIM no. 113650] or Melnick-Fraser syndrome represent phenotypic variants of the BOR syndrome, which is inherited in an autosomal