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GENATLAS PHENOTYPE
last update : 14-09-2011
Symbol DEL13Q14
Location 13q14.2
Name chromosome 13q deletions including band q14
Corresponding gene RB1
Main clinical features
  • high risk of developping retinoblastoma and/or osteosarcoma
  • mental retardation is usual but may be absent in the smallest deletions
  • small deletions (within 13q14): patients can show macrocephaly, tall stature, obesity, motor and/or speech delay
  • medium deletions (within 13q12.3q21.2): characteristic facial features, mild to moderate psychomotor delay, short stature and microcephaly.
  • large (within 13q12q31.2) deletions: characteristic craniofacial dysmorphism, short stature, microcephaly, mild to severe psychomotor delay, hypotonia, constipation and feeding problems
  • additional features included deafness, seizures and brain and heart anomalies
  • PMID: 21505449
    Genetic determination chromosomal
    Function/system disorder neoplasia
    multisystem/generalized
    mental retardation
    Type MCA/MR
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
      deletion haploinsufficiency deletion encompassing the RB1 gene, with variable breakpoints on each side of the gene, usually de novo , may be inherited in some cases
      insertion haploinsufficiency derivative chr13 of a parental insertion
    Remark(s) hemizygous loss of NUFIP1 and PCDH8 may contribute to psychomotor delay, deletion of MTLR1 to microcephaly and loss of EDNRB to feeding difficulties and deafness PMID: 21505449