dharmadhikari_14_ASD/ID_discovery_cases

  Dharmadhikari AV , et al. 2014

 Four cases with 16q24.1 duplications involving the FOXF1 gene: two from Medical Genetics Laboratories at Baylor College of Medicine; one from the Medical Genetics Center, Munich, Germany; and one reported in DECIPHER (265898) from the Saint Vincent de Paul Catholic Hospitals Association of Lille, Free Faculty of Medicine, Lille, France

 4

 Three cases with neurodevelopmental phenotypes [case 1 diagnosed with speech delay and behavioral problems; case 2 diagnosed with autism (based on DSM-V), with additional diagnoses of unspecified mood and anxiety disorder, pervasive developmental disorder not otherwise specified (PDD-NOS), and emotional disorder; case 4 diagnosed with speech delay, motor delay, and borderline intellectual disability]; one case (case 3) with normal psychomotor development but diagnosis with pyloric stenosis, mesenterium commune, aplasia of the appendix, and multiple sclerosis.

 Range, 4 yrs. 2 mos.-47 yrs.

 75% Male

 1720000

 0

 1

 1

 handrigan_13_ASD/DD/ID_discovery_cases

  Handrigan GR , et al. 2013

 Patients with 16q24.2 deletions recruited at the University of Alberta, Edmonton, the Hospital for Sick Children, Toronto, Signature Genomic Laboratories, and the Mayo Clinic).

 35

 22 patients with ASD (19 with pervasive developmental delay/PDD, 3 with autism), 3 patients with intellectual disability (defined as IQ<70 by DSM-IV); 11 patients with facial dysmorphisms.

 Range, 0 mos.-20 yrs.

 48.57% Male

 2001294

 4

 0

 4

 handrigan_13_ASD/DD/ID_discovery_controls

 Microarray data from population-based control individuals [4783 controls from the Wellcome Trust Case Control Consortium (WTCCC), 1123 PopGen controls from Germany, 1234 controls from the Ottawa Heart Institute, 1056 controls from HapMap, 1287 controls from SAGE, 1120 population controls from Ontario, and 416 controsl from the Ontario Population Genomics Platform]

 11019

 Control

 NA

 NA

 0

 0

 0

 0