Abstract
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) |
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Pages (from-to) | 923-930 |
Number of pages | 8 |
Journal | American Journal of Medical Genetics |
Volume | 140 A |
Issue number | 8 |
DOIs | |
State | Published - Apr 15 2006 |
Keywords
- Breakpoint on Xq
- Isodicentric X chromosome
- idic(X)(q24)
ASJC Scopus subject areas
- Genetics
- Genetics(clinical)