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GENATLAS PHENOTYPE
last update : 17-10-2012
Symbol DUP17P13
Location 17p13.33
Name chromosome 17p13.3 microduplications
Other name(s) chromosome 17p13.3 duplication syndrome
Corresponding gene PAFAH1B1 , YWHAE , CRK , BHLHA9
Main clinical features
  • duplications encompassing YWHAE and CRK are associated with mild to moderate DD, hypotonia and subtle facial dysmorphism, a trend for overgrowth and no gross cerebral malformation
  • duplications encompassing PAFAH1B1 are associated with a severe neurobehavioral phenotype with failure to thrive, craniosynostosis, intestinal malrotation and brain structural anomalies
  • some duplications encompass all three genes (Shchelochkov 2010)
  • split-hand/foot malformation and long-bone deficiency (SHFLD) in 3 families with a 173 kb overlapping region of deletion and incomplete penetrance PMID: 21629300
  • genomic duplications encompassing BHLHA9 are associated with SHFLD and non-Mendelian inheritance characterised by a high degree of non-penetrance with sex bias PMID: 22147889
    • Genetic determination chromosomal
    Related entries DEL17P13D, MDS
    Function/system disorder mental retardation
    Type MCA/MR
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
      duplication   size from 1.8 to 4 Mb with an overlap of 1.8 Mb (Roos et al,2009)
    Remark(s) encompassing the region of the Miller-Dieker syndrome ; the microduplication minimal region of overlap spans 72 kb encompassing a single gene, YWHAE (Bruno 2010);