Taxon:

Human

Gene:

DiGeorge / velocardiofacial syndrome

Chromosome:

22

Location:

22q11.2

Description:

Deletions causing DiGeorge syndrome (Velocardiofacial syndrome) were reported to occur more frequently on the maternally derived chromosome 22 (Seaver LH et al, 1994; Demczuk S et al, 1995).
The allelic expression of the orthologous region of mouse Chr16 in the central nervous system was studied (Maynard TM et al, 2006). No evidence for imprinting or allelic bias was found out of 25 brain-expressed 22q11 orthologs comprising the minimal 22q11 deletion region. Maynard et al concluded that if imprinting exists it is at low levels and unlikely to affect the DiGeorge phenotype.
Sandrin-Garcia P et al (2007) found no parental bias for the transmission of the deletion.

Category:

Other

Record:

3

Last Modified 10/8/2013

Links:

OMIM (VCFS)   OMIM (DGS)  


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