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

Ambras syndrome (AMS) is a unique form of congenital universal hypertrichos is, The syndrome has been found in association with rearrangements of chrom osome 8 in two isolated cases. One of these patients was reported to have a n 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 inser tion of the q23-q24 region into a more proximal region of the long arm of c hromosome 8 as well as a large deletion in 8q23:46,XX, rea(8)(8pter-->8q13: :8q23.2-->8q24.1::8q13-->8q23.1::8q24.1-->8qter). Given the large number of breakpoints and the presence of a substantial deletion, it is surprising t hat the proposita did not show anomalies other than these characteristic of Ambras syndrome, (C) 2001 Wiley-Liss, Inc.