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

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 Yp11 loci,...

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Detalles Bibliográficos
Autores principales: Si, Nuo, Meng, Xiaolu, Zhao, Zhen, Xia, Weibo, Zhang, Xue
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2019
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6489244/
https://www.ncbi.nlm.nih.gov/pubmed/31036090
http://dx.doi.org/10.1186/s12967-019-1887-2

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6489244/
https://www.ncbi.nlm.nih.gov/pubmed/31036090
http://dx.doi.org/10.1186/s12967-019-1887-2

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