Home Page
References OMIM Gene GeneReviews HGMD HGNC
GENATLAS PHENOTYPE
last update : 30-03-2010
Symbol DEL10Q23
Location 10q22.3q23.3
Name chromosome 10q22q23 deletions and duplications
Corresponding gene BMPR1A , NRG3 , GRID1
Other symbol(s) DUP10Q23
Main clinical features
  • developmental delay, mainly affecting speech, macrocephaly, mild facial dysmorphisms, cerebellar anomalies, cardiac defects and congenital breast aplasia PMID: 21248748
  • possibly early-onset colorectal cancer and other malignancies
  • duplications between LCRs3 and 4 are associated with variable phenotypic penetrance, may lead to a distinct facial appearance and delays in speech and motor development. PMID: 21248748
    • Genetic determination chromosomal
    genomic disorder
    Related entries MCAUTS
    Function/system disorder
    Type MCA/MR
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
      deletion   variable size from 2 to 12.3 Mb with overlapping deleted region of 1.47 Mb including 10 genes
      deletion   between LCRs3 and 4
    Remark(s)