Isodicentric Y mosaicism involving a 46, XX cell line: Implications for management. Issue 1 (26th September 2015)

• Record Type: Journal Article
• Authors: Hipp, Lauren E.; Mohnach, Lauren H.; Wei, Sainan; Thomas, Inas H.; Elhassan, Maha E.; Sandberg, David E.; Quint, Elisabeth H.; Keegan, Catherine E.
• Is Part Of: American journal of medical genetics. Volume 170:Issue 1(2016)
• Page Start: 233
• Page End: 238
• Publication Date: 2015-09-26
• Subjects: isodicentric Y -- disorders of sex development -- gonadoblastoma -- mosaicism -- interdisciplinary care; Medical genetics -- Periodicals; 616.14205
• DOI: 10.1002/ajmg.a.37403
• Languages: English
• ISSNs: 1552-4825

Abstract

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. © 2015 Wiley Periodicals, Inc.