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-->8q23.1::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.