A new case of Ambras syndrome associated with a paracentric inversion (8) (q12; q22)
Ambras syndrome (AS) is a special form of congenital universal hypertrichosis described for the first time by Baumeister et al. (1). This form differs from other forms of congenital hypertrichosis in the pattern of hair distribution and its associated anomalies. The molecular-genetic 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 clinical signs of AS so far described in the literature and the second with an inversion in chromosome 8 and the first with evaluation of peripheral 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 parts of the body were covered with fine, lightly pigmented hair. The face showed many dysmorphic features. Chromosome analysis showed a paracentric inversion of one chromosome 8. The breakpoints were localised at q12 and q22. The parental karyotypes were normal. Laboratory investigation showed normal plasma levels of testosterone, androstenedione (A), 17-hydroxyprogesterone, dehydroepiandrosterone-sulphate (DHA-S), free testosterone (FT), dihydrotestosterone (DHT) and 3alpha-androstanediol-glucuronide (3AG). Here we report a chromosomal inversion similar to that found previously not associated with alterations in androgen plasma levels.
Department of Paediatrics and Public Health, University Tor Vergata, Rome, Italy.
R
R
Balducci
V
V
Toscano
B
B
Tedeschi
A
A
Mangiantini
R
R
Toscano
C
C
Galasso
S
S
Cianfarani
B
B
Boscherini
D007446:Chromosome Inversion; D002898:Chromosomes, Human, Pair 8; D005260:Female; D006801:Humans; D006983:Hypertrichosis / Q000151:congenital / Q000235:genetics*; D013577:Syndrome