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De novo isodicentric X chromosome: 46,X,idic(X)(q24), and summary of literature
Author(s) -
Tsai Anne ChunHui,
Fine Catherine A.,
Yang Michael,
Walton Carol S.,
Beischel Linda,
Johnson John P.
Publication year - 2006
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.31184
Subject(s) - x chromosome , chromosome , genetics , physics , biology , gene
We describe a 12‐year‐old patient, the second live born prenatally ascertained patient in the literature, with a de novo isodicentric X chromosome, karyotype 46,X,idic(X)(q24), with normal growth and development and lack of dysmorphic features. Molecular and cytogenetic studies were performed to further characterize the isodicentric chromosome X behavior. Literature on isodicentric X chromosomes with various breakpoints on Xq is reviewed and summarized. © 2006 Wiley‐Liss, Inc.