Table 2 15q13.2q13.3 microduplications
Patient 6Patient 7Patient 8Patient 9Patient 10
Genetics
CohortCHBCHBAGREAGREAGRE
Referring diagnosisAutismLanguage delayAutismAutismAutism
Duplication size1.98 Mb1.58 Mb1.93 Mb0.50 Mb0.50 Mb
Coordinates (hg18)28719136–3070143228719136–3029815528719136–3064891828902339–2940460328902339–29404603
Originde novoMaternalde novoMaternalMaternal
LCR involvedBP4–BP5BP4–BP5BP4–BP5Internal to BP4–BP5Internal to BP4–BP5
Age, gender20 years, male2 years 10 months, female8 years, maleMaleMale
Cognitive/behavioural development
Developmental delayYesYesYesN/AN/A
Mental retardationYesNoNot testedN/AN/A
ASDYesNoYes, ADOS, ADI-RYes, ADI-RYes, ADI-R
Cognitive testingFSIQ below 50Not performedN/AN/AN/A
Receptive languageSeverely impaired (follows simple commands)Borderline averageSeverely ImpairedN/AN/A
Expressive languageSeverely impaired (non-verbal)Below averageSeverely ImpairedN/AN/A
Repetitive behaviourYesYesN/AN/AN/A
Poor eye contactYes; variableYesN/AN/AN/A
Social interactionsImpairedN/AN/AN/AN/A
Self stimulatory behavioursYesNoN/AN/AN/A
Self injurious behavioursYesN/AN/AN/AN/A
Behavioural issuesYesYesN/AN/AN/A
Age at walking12 months23 monthsN/AN/AN/A
History of seizuresNoneNoneN/AN/AN/A
EEGNormalNot doneN/AN/AN/A
MRINormalNot doneN/AN/AN/A
  • ADOS, Autism Diagnostic Observational Schedule; ADI-R, Autism Diagnostic Interview-Revised; AGRE, Autism Genetic Resource Exchange; ASD, autism spectrum disorder; BP, breakpoint; CHB, Children’s Hospital Boston; EEG, electroencephalogram; FSIQ, Full Scale Intelligence Quotient; LCR, low copy repeat; MRI, magnetic resonance imaging; N/A, not available.