A 105 kb interstitial insertion in the Xq27.1 palindrome from pseudoautosomal region PAR1 causes a novel X-linked recessive compound phenotype

A 105 kb interstitial insertion in the Xq27.1 palindrome from pseudoautosomal region PAR1 causes a novel X-linked recessive compound phenotype

Abstract Background Genomic disorders present a wide spectrum of unrelated clinical entities that result from genomic rearrangements. Interstitial insertions requiring three points of breakage are rare genomic rearrangement events. The pseudoautosomal region PAR1, homologous between the Xp22 and Yp1...

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Bibliographic Details
Main Authors: Nuo Si, Xiaolu Meng, Zhen Zhao, Weibo Xia, Xue Zhang
Format: Article
Language:English
Published: BMC 2019-04-01
Series:Journal of Translational Medicine
Subjects:
Interstitial insertion
Pseudoautosomal region 1
Xq27.1 palindrome
X-linked recessive
Genu varum
Online Access:http://link.springer.com/article/10.1186/s12967-019-1887-2

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http://link.springer.com/article/10.1186/s12967-019-1887-2

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