A NEW CASE OF AMBRAS-SYNDROME ASSOCIATED WITH A PARACENTRIC INVERSION(8) (Q12-Q22)

Ambras syndrome (AS) is a special form of congenital universal hypertr ichosis described for the first time by Baumeister et al. (1). This fo rm differs from other forms of congenital hypertrichosis in the patter n of hair distribution and its associated anomalies. The molecular-gen etic cause of AS is unknown; the association of AS with a pericentric inversion (8) (p11.2; q22) described in the case of Baumeister so far has been unique in the literature. This report is the tenth with clini cal signs of AS so far described in the literature and the second with an inversion in chromosome 8 and the first with evaluation of periphe ral androgens. The new-born girl presented with abundant and dark hair on the face and ears, on the shoulders and on the arms; the other par ts of the body were covered with fine, lightly pigmented hair. The fac e showed many dysmorphic features. Chromosome analysis showed a parace ntric inversion of one chromosome 8. The breakpoints were localised at q12 and q22. The parental karyotypes were normal. Laboratory investig ation showed normal plasma levels of testosterone, androstenedione (A) , 17-hydroxyprogesterone, dehydroepiandrosterone-sulphate (DHA-S), fre e testosterone (FT), dihydrotestosterone (DHT) and 3 alpha-androstaned iol-glucuronide (3AG). Here we report a chromosomal inversion similar to that found previously not associated with alterations in androgen p lasma levels.