Primary amenorrhea in a woman with a cryptic complex chromosome rearrangement involving the critical regions Xp11.2 and Xq24

Cristina Hernando, Alberto Plaja, Vicens Català, Enric Sarret, Josep Egozcue, Carme Fuster

Research output: Contribution to journalArticleResearchpeer-review

5 Citations (Scopus)

Abstract

To characterize a complex chromosome rearrangement (CCR) previously detected by G-banding in peripheral blood lymphocytes, as 46,X,-2,-11,-22,-X, +mar 1+mar2+mar3+mar4 in a patient with primary amenorrhea. Case report. University faculty of Medicine and hospital. A 36-year-old woman with primary amenorrhea. Fluorescence in situ hybridization (FISH). Use of commercially available M-FISH probe (24 colors simultaneously) and whole chromosome painting probes for chromosomes 2, 11, 22, and X to characterize the CCR. The use of conventional and multiple FISH allowed the redefinition of the CCR, showing a cryptic insertion of chromosome 11 in marker 3 previously suspected by M-FISH. The combination of G-banding and FISH data revealed that four chromosomes and seven breakpoints, including 2q21, 2q31, 11q22.1, 11q22.3, 22q13.3, Xp11.21, and Xq24, were implicated in this CCR. This report confirms the importance of a combination of G-banding and FISH (M-FISH and conventional FISH) techniques to characterize the de novo CCR. These techniques also were useful in defining two possible critical chromosome regions, Xp11.21 and Xq24, in which genes of potential interest for a primary amenorrhea could be located. © 2004 by American Society for Reproductive Medicine.
Original languageEnglish
Pages (from-to)1666-1671
JournalFertility and Sterility
Volume82
DOIs
Publication statusPublished - 1 Dec 2004

Keywords

  • Chromosomal aberration
  • FISH
  • complex chromosome rearrangement
  • primary amenorrhea

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