A family with Xq22.3q25 interstitial deletion and normal ovarian function

Long Ching Kuan, Mei-Tsz Su, Chin Ming Wu, Ming Chen, Pao-Lin Kuo, Tsung Cheng Kuo

Research output: Contribution to journalArticle

Abstract

Objective: To investigate genomic changes in a family with deletion of X chromosome q22.3-q25 associated with normal constitutional and reproductive phenotypes. Design: Case report. Setting: Academic district hospital genetic laboratory. Patient(s): A family incidentally found to have deletion of X chromosome q22.3-q25. Intervention(s): Cytogenetic analysis and array-based comparative genomic hybridization for amniotic fluid and peripheral blood lymphocyte of family members. Main Outcome Measure(s): Ovarian function and menstrual cycles. Result(s): The proband and two daughters showed deletion of Xq22.3q25. This region spans 17.4 Mb and contains 121 genes. Conclusion(s): Female subjects with deletion of Xq22.3q25 may present with normal constitutional and reproductive phenotypes.

Original languageEnglish
JournalFertility and Sterility
Volume96
Issue number1
DOIs
Publication statusPublished - 2011 Jul 1

All Science Journal Classification (ASJC) codes

  • Obstetrics and Gynaecology
  • Reproductive Medicine

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