De novo isodicentric X chromosome: 46,X,idic(X)(q24), and summary of literature | Zendy

Tsai Anne ChunHui | Zendy; Fine Catherine A. | Zendy; Yang Michael | Zendy; Walton Carol S. | Zendy; Beischel Linda | Zendy; Johnson John P. | Zendy

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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.

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