We describe a 12-year-old patient, the second live born prenatally ascertained patient in the literature, with a de novo isodicentric X chromosome, karyotype 46,X,idic(X)(q24), with normal growth and development and lack of dysmorphic features. Molecular and cytogenetic studies were performed to further characterize the isodicentric chromosome X behavior. Literature on isodicentric X chromosomes with various breakpoints on Xq is reviewed and summarized.
|Original language||English (US)|
|Number of pages||8|
|Journal||American Journal of Medical Genetics|
|State||Published - Apr 15 2006|
- Breakpoint on Xq
- Isodicentric X chromosome
ASJC Scopus subject areas