De novo isodicentric X chromosome: 46,X,idic(X)(q24), and summary of literature

American Journal of Medical Genetics. Part a
Anne Chun-Hui TsaiJohn P Johnson

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.

References

Jan 1, 1978·American Journal of Medical Genetics·G DewaldH Gordon
Jun 29, 1976·Human Genetics·A K SinhaJ J Nora
Jun 1, 1989·Prenatal Diagnosis·J L Carrasco JuanJ Parache Hernández
Mar 1, 1986·Human Genetics·E ThermanG E Sarto
Jul 1, 1987·Clinical Genetics·G PonzioC Marchese
Jan 1, 1984·Human Genetics·C TruncaZ Rosenwaks
Feb 1, 1983·Southern Medical Journal·V M BarnabeiT Kelly
Aug 1, 1982·Clinical Genetics·J P FrynsH van den Berghe
Jun 1, 2005·Drug Safety : an International Journal of Medical Toxicology and Drug Experience·Talha Al-ShawafGedis Grudzinskas

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Citations

Jan 27, 2015·Journal of the Formosan Medical Association = Taiwan Yi Zhi·Tse-Ya YuTien-Shang Huang
Apr 14, 2007·American Journal of Medical Genetics. Part a·Horacio Rivera, Maria G Domínguez

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