Facial anomalies syndrome


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Facial anomalies syndrome

Immunodeficiency, Centromere Instability and Facial Anomalies (ICF) Syndrome

Facial anomalies syndrome
Facial anomalies syndrome
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Immunodeficiency-centromeric instability-facial anomalies syndrome; Immunodeficiency syndrome, variable; Centromeric instability, immunodeficiency .

The Immunodeficiency, Centromeric region instability, Facial anomalies syndrome (ICF) is a rare autosomal recessive disease described in about 50 patients.


Description:However, the genes that displayed ICF-specific differences in RNA levels, other than the immunoglobulin sequences, were not those predicted to be differentially expressed just because the ICF B-cell lines may have been derived from less mature cells than is normally the case. In one case, delayed psychomotor development changed into age-appropriate development at 36 months [ 35 ]. Moreover, the 1qh satellite DNA hypomethylation is not required for decondensation in these regions because normal amniotic fluid-derived cultures at late passage essentially only embryonic fibroblasts show high frequencies of 1qh decondensation despite a very high level of satellite DNA methylation at 1qh [ 58 ]. Epidemiology ICF is an autosomal recessive disease, with approximately 50 patients reported worldwide since it was first described in the late 's [ 3 , 4 ]. Fragility of the centromeric region of chromosome 1 associated with combined immunodeficiency in siblings: ICF is the only human genetic disease currently known to involve mutations in a DNA methyltransferase gene. However, the features of the various types overlap significantly, and some types are not well defined.

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Views: 6000 Date: 2018-06-09 Favorited: 15 favorites

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