Complex cytogenetic rearrangement of chromosome 8q in a case of Ambras syndrome

M. Tadin, E. Braverman, S. Cianfarani, A. J. Sobrino, B. Levy, A. M. Christiano, D. Warburton

Research output: Contribution to journalArticlepeer-review

Abstract

Ambras syndrome (AMS) is a unique form of congenital universal hypertrichosis. The syndrome has been found in association with rearrangements of chromosome 8 in two isolated cases. One of these patients was reported to have an apparently balanced paracentric inversion of chromosome 8, inv(8)(q12q22). Our cytogenetic analysis on this patient showed that the rearrangement of chromosome 8 is more complex than initially reported. We detected an insertion of the q23-q24 region into a more proximal region of the long arm of chromosome 8 as well as a large deletion in 8q23:46,XX, rea(8)(8pter→8q13::8q23.2→8q24.1::8q13→8q 23.1::8q24.1→8qter). Given the large number of breakpoints and the presence of a substantial deletion, it is surprising that the proposita did not show anomalies other than these characteristic of Ambras syndrome.

Original languageEnglish
Pages (from-to)100-104
Number of pages5
JournalAmerican Journal of Medical Genetics
Volume102
Issue number1
DOIs
Publication statusPublished - Jul 22 2001

Keywords

  • Ambras syndrome
  • Chromosome 8
  • Deletion
  • FISH
  • Hair follicle
  • Hypertrichosis

ASJC Scopus subject areas

  • Genetics(clinical)

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