De novo isodicentric X chromosome: 46,X,idic(X)(q24), and summary of literature.
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.
Tsai
Anne Chun-Hui
AC
Division of Clinical Genetics and Metabolism, The Children's Hospital, University of Colorado School of Medicine, Denver, Colorado 80218, USA. tsai.chun-hui@tchden.org
Fine
Catherine A
CA
Yang
Michael
M
Walton
Carol S
CS
Beischel
Linda
L
Johnson
John P
JP
D002648:Child; D041321:Chromosomes, Human, X / Q000235:genetics*; D020732:Cytogenetic Analysis; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D012729:Sex Chromosome Aberrations