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References OMIM Gene GeneReviews HGMD HGNC
last update : 14/05/08
Symbol DUP12Q24
Location 12q24.13
Name chromosome 12q24.1q24.2 duplication
Other name(s) partial trisomy 12q24.1q24.2
Corresponding gene PTPN11
Main clinical features overlapping with Noonan syndrome, significant developmental delay, microcephaly, hip abnormalities and structural brain anomalies
Genetic determination chromosomal
Related entries NS1
Function/system disorder
Gene product
Name SHP-2, a tyrosine-protein phosphatase regulating the RAS/MAPK signaling pathway
Gene mutationChromosome rearrangementEffectComments
  duplication over-expression in 1 patient, 10Mb in size including the PTPN11 gene
Remark(s) the increased gene-dosage of the PTPN11 gene is expected to have the same consequences as gain-of-function mutation seen in Noonan syndrome