title: De novo isodicentric X chromosome: 46,X,idic(X)(q24), and summary of literature.
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.
authors.affiliation: 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
authors.forename: Anne Chun-Hui
authors.initials: AC
authors.lastname: Tsai
authors.forename: Catherine A
authors.initials: CA
authors.lastname: Fine
authors.forename: Michael
authors.initials: M
authors.lastname: Yang
authors.forename: Carol S
authors.initials: CS
authors.lastname: Walton
authors.forename: Linda
authors.initials: L
authors.lastname: Beischel
authors.forename: John P
authors.initials: JP
authors.lastname: Johnson
mesh_terms: D002648:Child; D041321:Chromosomes, Human, X / Q000235:genetics*; D020732:Cytogenetic Analysis; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D012729:Sex Chromosome Aberrations