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GENATLAS PHENOTYPE
last update : 29-11-2023
Symbol DEL15QD
Location 15q26.3
Name chromosome 15q distal deletion
Other name(s) 15q26 monosomy, ring chromosome 15
Corresponding gene IGF1R , NR2F2
Other symbol(s) del15q26, RG15, SRS15
Main clinical features
  • pre- and post-natal growth retardation, variable mental retardation, microcephaly, facial anomalies including relative micrognathia and triangular facies and small hands with brachymesophalangism
  • congenital heart defects ( coarctation of the aorta, and ventricular septal defect)
  • Silver-Russell syndrome-like
    • Genetic determination chromosomal
    Related entries DIH1
    Function/system disorder multisystem/generalized
    mental retardation
    Type MCA/MR
    Gene product
    Name contiguous gene syndrome
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
      deletion    
      ring    
    Remark(s) growth retardation is likely related to the loss of one copy of the IGF1R gene and heart malformations to haploinsufficiency of NR2F2 gene, PMID: 21172461
    Genotype/Phenotype correlations some patients may exhibit some phenotypic characteristics of Silver-Russel syndrome. Heart malformations could be limited to deletions including the NR2F2 gene ~6.6 Mb of 15qtel. Congenital diaphragmatic hernias are observed in del15q26.1q26.2. See DIH1 for CDH-heart-kidney association.