A New Case of Ambras Syndrome Associated with a Paracentric Inversion (8) (q12; q22)
June 1998
in “
Clinical Genetics
”
TLDR Ambras syndrome's genetic cause is unknown, as it isn't linked to androgen levels.
The document reported a new case of Ambras syndrome (AS), a rare form of congenital universal hypertrichosis, characterized by excessive hair growth. This case involved a newborn girl with abundant dark hair on her face, ears, shoulders, and arms, and fine, lightly pigmented hair on other body parts. The girl exhibited many dysmorphic facial features. Chromosome analysis revealed a paracentric inversion on chromosome 8, with breakpoints at q12 and q22, while her parents had normal karyotypes. This was the second reported case of AS associated with an inversion in chromosome 8, and the first to evaluate peripheral androgens, which were found to be at normal plasma levels. The study highlighted a chromosomal inversion similar to a previously reported case, without associated alterations in androgen levels.
