Table 1 Individuals with deletion 15q13.3
FamilyChild/ parent*DD or MR/autismLanguage delay/seizuresWeight/height/FOCBehaviourOtherInheritance
F1-1ChildDQ 58/autism disorderModerate/no50%/30%/>>97%Mild stereotypicBenign hydrocephalus, mild Chiari IAdopted to unrelated family; little information on biological parents
F2-1ChildIQ 82/AspergerMild/no95%/>97%/90%ADHDAdopted to unrelated family; mother said to have mental retardation
F3-1ChildModerate DD/borderlineSevere/noAll 50–75%None reportedNormal MRIDe novo
F4-1ChildNormal?/noMild/yes65%/7%/?None reportedNormal MRIMother has deletion
F4-3MotherNormal/noNo/noNormalNormalMother of F4-1; normal phenotype
F5-1ChildModerate DD/noModerate/no44%/11%/75%None reportedDigital findings, arachnoid cystMother has the deletion
F5-3MotherNormal/noNo/noNormalNormalMother of F5-1; normal phenotype
F6-1ChildMild DD/noModerate/no92%/>89%/50%Aggressive, self injuriousFather has deletion
F6-2FatherLearning disabilities/noLikely/noNormalNone reportedFather of F6-1; learning disabilities, bipolar disorder
F7-1ChildModerate DD/noModerate/no25%/50%/50%Head bangingDigital findings, MRI normalMother learning disorder but no deletion. Removed from parental care 15 months of age
F8-1ChildMild MR/yesModerate/noNormal rangeADHDLong digits, facial dysmorphisms, sleep problemsThree sibs adopted to same unrelated family; 2 affected and 1 unaffected sib; mother said to have mental retardation; father schizophrenia
F8-2ChildMild MR/noModerate/noNormal rangeImpulsive, ADHD, mood disorderLong digits, facial dysmorphisms, sleep problemsSibling of F8-1
F9-1ChildIQ 27/autism disorder ADI-RSevere/no50%/75% (10 y)/50% birthExtremely hyperkinetic and very aggressive behavioursMild facial dysmorphismIn custody of paternal grandmother; mother deceased and had “mental illness”. Father normal
F10-1ChildGlobal delay/too youngSevere language delay/no2%/10%/25%RockingMRI normalFather has deletion. Mother learning disability but no deletion. Two sibs with learning disability but not deletion. Chromosome 16q24.1 duplication present in father and three siblings including F10-1
F10-4FatherNormal/noNo/noNormalNormalFather of F10-1; normal phenotype
F11-1ChildModerate DD/noSevere/no95%/90%/>97%NoneFather has deletion
F11-2FatherLearning disabilities/noNot known/noNormalNoneFather of F11-1; learning disabilities, bipolar disorder
F12-1ChildIQ 70/autismModerate/no?<5%/5%/2%Impulsive, ADHD, mood disorderNystagmusMZ twin of F12-2; mother has deletion
F12-2ChildIQ 70/autismModerate/no?<5%/5%/2%Impulsive, ADHD, mood disorderNystagmusMZ twin of 12-1; mother has deletion
F12-4MotherNormal/noNo/noNormalNormalMother of F12-1 and F12-2; normal phenotype
  • ADHD, attention deficit hyperactivity disorder; ADI-R, Autism Diagnostic Interview-Revised; DD, developmental delay; FOC, frontal occipital circumference; MR, mental retardation; MRI, magnetic resonance imaging.

  • *Age and sex of children is not provided for purposes of confidentiality.