Small marker X chromosomes lack the X inactivation center: implications for karyotype/phenotype correlations.

The abnormal phenotype and/or mental retardation seen in persons with small marker X (mar(X)) chromosomes has been hypothesized to be due to the loss of the X inactivation center (XIC) at Xq13.2, resulting in two active copies of genes in the pericentromeric region. In order to define precisely the...

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Main Authors: Wolff, D. J., Brown, C. J., Schwartz, S., Duncan, A. M., Surti, U., Willard, H. F.
Format: Artigo
Sprog:Inglês
Udgivet: 1994
Fag:
Research Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC1918222/
https://ncbi.nlm.nih.gov/pubmed/8023855
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