title: Isodicentric Y mosaicism involving a 46, XX cell line: Implications for management.
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.
authors.affiliation: Department of Internal Medicine, Molecular Medicine & Genetics, University of Michigan, Ann Arbor, Michigan.
authors.forename: Lauren E
authors.initials: LE
authors.lastname: Hipp
authors.affiliation: Department of Obstetrics & Gynecology, University of Michigan, Ann Arbor, Michigan.|Department of Urology, University of Michigan, Ann Arbor, Michigan.
authors.forename: Lauren H
authors.initials: LH
authors.lastname: Mohnach
authors.affiliation: Department of Pediatrics and Human Development, Michigan State University, East Lansing, Michigan.
authors.forename: Sainan
authors.initials: S
authors.lastname: Wei
authors.affiliation: Division of Endocrinology, Department of Pediatrics, University of Michigan, Ann Arbor, Michigan.
authors.forename: Inas H
authors.initials: IH
authors.lastname: Thomas
authors.affiliation: Division of Endocrinology, Department of Pediatrics, University of Michigan, Ann Arbor, Michigan.
authors.forename: Maha E
authors.initials: ME
authors.lastname: Elhassan
authors.affiliation: Division of Pediatric Psychology and Child Health Evaluation & Research (CHEAR) Unit, Department of Pediatrics, University of Michigan, Ann Arbor, Michigan.
authors.forename: David E
authors.initials: DE
authors.lastname: Sandberg
authors.affiliation: Department of Obstetrics & Gynecology, University of Michigan, Ann Arbor, Michigan.
authors.forename: Elisabeth H
authors.initials: EH
authors.lastname: Quint
authors.affiliation: Division of Genetics, Department of Pediatrics, University of Michigan, Ann Arbor, Michigan.|Department of Human Genetics, University of Michigan, Ann Arbor, Michigan.
authors.forename: Catherine E
authors.initials: CE
authors.lastname: Keegan
mesh_terms: D059786:Abnormal Karyotype; D000293:Adolescent; D041321:Chromosomes, Human, X / Q000235:genetics*; D041322:Chromosomes, Human, Y / Q000235:genetics*; D003072:Cognition Disorders / Q000235:genetics; D012734:Disorders of Sex Development / Q000235:genetics*; D005260:Female; D006801:Humans; D009030:Mosaicism; D012729:Sex Chromosome Aberrations; D014427:Twins / Q000235:genetics
keywords: disorders of sex development; gonadoblastoma; interdisciplinary care; isodicentric Y; mosaicism