Isodicentric Y mosaicism involving a 46, XX cell line: Implications for management

Lauren E. Hipp, Lauren H. Mohnach, Sainan Wei, Inas H. Thomas, Maha E. Elhassan, David E. Sandberg, Elisabeth H. Quint, Catherine E. Keegan

Research output: Contribution to journalArticlepeer-review

3 Scopus citations

Abstract

Carriers of isodicentric Y (idicY) mosaicism exhibit a wide range of clinical features, including short stature, gonadal abnormalities, and external genital anomalies. However, the phenotypic spectrum for individuals carrying an idicY and a 46, XX cell line is less clearly defined. A more complete description of the phenotype related to idicY is thus essential to guide management related to pubertal development, fertility, and gonadoblastoma risk in mosaic carriers. Findings from the evaluation of twin females with an abnormal karyotype, 48, XX, +idic(Yq) x2/47, XX, +idic(Yq)/46, XX, are presented to highlight the importance of interdisciplinary care in the management of multifaceted disorders of sex development.

Original languageEnglish
Pages (from-to)233-238
Number of pages6
JournalAmerican Journal of Medical Genetics, Part A
Volume170
Issue number1
DOIs
StatePublished - Jan 1 2016

Keywords

  • Disorders of sex development
  • Gonadoblastoma
  • Interdisciplinary care
  • Isodicentric Y
  • Mosaicism

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