Case Report

Isodicentric X Chromosome in a Girl With Gonadal Dysgenesis

Authors: VANESSA M. BARNABEI PhD, THOMAS A. WILSON MD, ANN J. JOHANSON MD, HERMAN E. WYANDT PhD, THADDEUS KELLY MD, PhD

Abstract

SUMMARYChromosomal analysis on a 15-year-old girl with amenorrhea and lack of secondary sexual development showed a normal X chromosome and an isodicentric X chromosome, 46,X, idic(x) (pter→q23::q23→pter). Thus the patient has duplicated and deleted X chromosome material. There was no evidence of 45,X mosaicism. BrdU-labeling revealed the abnormal X to be late-replicating.

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References