A Classification of Vulvoscopic Findings for Clinical Diagnosis
โ Scribed by T. Audisio; J. Zarazaga; O. Vainer
- Book ID
- 114436494
- Publisher
- Lippincott Williams and Wilkins
- Year
- 1999
- Tongue
- English
- Weight
- 519 KB
- Volume
- 3
- Category
- Article
- ISSN
- 1089-2591
No coin nor oath required. For personal study only.
๐ SIMILAR VOLUMES
## Abstract Pseudoxanthoma elasticum (PXE) is a systemic disorder affecting elastic tissues most markedly in skin, retina, and blood vessels. It is caused by mutations in the __ABCC6__ gene and is transmitted in an autosomal recessive fashion. In 1994 a new classification system for PXE was publish
We report the first case of hexasomy 12p mosaicism due to 2 copies of an apparent i(12p) [46,XW48,XX, + i(12p), + i(12p)l. In every cell that contained the i(12p),2 copies of the marker were found. The hexasomy was found i n amniocytes (16%) and skin fibroblasts (95%) but not in peripheral blood ly