TY - JOUR
T1 - Isodicentric Y mosaicism involving a 46, XX cell line
T2 - Implications for management
AU - Hipp, Lauren E.
AU - Mohnach, Lauren H.
AU - Wei, Sainan
AU - Thomas, Inas H.
AU - Elhassan, Maha E.
AU - Sandberg, David E.
AU - Quint, Elisabeth H.
AU - Keegan, Catherine E.
N1 - Funding Information:
We would like to thank the twins and their family for their participation, as this contribution would not be possible without their cooperation and support. In addition, we would like to acknowledge the members of the University of Michigan Disorders of Sex Development clinical team for their collaboration in the care of this family. We also thank Drs. Jacob Mueller and Thomas Glover for helpful discussions. Thank you to the Disorders of Sex Development Translational Research Network (supported with grant R01 HD068138 from the Eunice Kennedy Shriver National Institute of Child Health and Human Development) for their participation in discussion regarding the screening and management of gonadal dysgenesis and gonadoblastoma. We also acknowledge Todd Ackley and the Michigan Medical Genetics Laboratory for assistance with the SNP array data presented in Figure 1.
Publisher Copyright:
© 2015 Wiley Periodicals, Inc.
PY - 2016/1/1
Y1 - 2016/1/1
N2 - 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.
AB - 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.
KW - Disorders of sex development
KW - Gonadoblastoma
KW - Interdisciplinary care
KW - Isodicentric Y
KW - Mosaicism
UR - http://www.scopus.com/inward/record.url?scp=84955712175&partnerID=8YFLogxK
U2 - 10.1002/ajmg.a.37403
DO - 10.1002/ajmg.a.37403
M3 - Article
C2 - 26407917
AN - SCOPUS:84955712175
VL - 170
SP - 233
EP - 238
JO - American Journal of Medical Genetics, Part A
JF - American Journal of Medical Genetics, Part A
SN - 1552-4825
IS - 1
ER -