TY - JOUR
T1 - Complex autism spectrum disorder in a patient with a 17q12 microduplication
AU - Brandt, Tracy
AU - Desai, Khyati
AU - Grodberg, David
AU - Mehta, Lakshmi
AU - Cohen, Ninette
AU - Tryfon, Ana
AU - Kolevzon, Alexander
AU - Soorya, Latha
AU - Buxbaum, Joseph D.
AU - Edelmann, Lisa
PY - 2012/5
Y1 - 2012/5
N2 - Autism spectrum disorders (ASDs) are phenotypically complex developmental neuropsychiatric disorders affecting approximately 0.6% of the population. About 30-70% of affected children are also considered to have intellectual disability (ID). The underlying genetic causes of ASDs are diverse with a defined etiology in 16-20%. Array comparative genomic hybridization (aCGH) has proven useful in identifying sub-microscopic chromosome aberrations in a subset of patients, some of which have been shown to be recurrent. One such aberration is the 1.4Mb microdeletion at chromosome 17q12, which has been reported to be associated with renal disease, growth restriction, diabetes, cognitive impairment, seizures, and in some cases an ASD. Patients with the reciprocal chromosome 17q12 microduplication typically have also been identified with ID and in some cases seizures and behavioral abnormalities. Here we report a patient with a de novo, 1.4Mb microduplication diagnosed with significant ID involving complex deficits and autism. To our knowledge, this is the first report of a patient with the 17q12 microduplication and a complex ASD phenotype.
AB - Autism spectrum disorders (ASDs) are phenotypically complex developmental neuropsychiatric disorders affecting approximately 0.6% of the population. About 30-70% of affected children are also considered to have intellectual disability (ID). The underlying genetic causes of ASDs are diverse with a defined etiology in 16-20%. Array comparative genomic hybridization (aCGH) has proven useful in identifying sub-microscopic chromosome aberrations in a subset of patients, some of which have been shown to be recurrent. One such aberration is the 1.4Mb microdeletion at chromosome 17q12, which has been reported to be associated with renal disease, growth restriction, diabetes, cognitive impairment, seizures, and in some cases an ASD. Patients with the reciprocal chromosome 17q12 microduplication typically have also been identified with ID and in some cases seizures and behavioral abnormalities. Here we report a patient with a de novo, 1.4Mb microduplication diagnosed with significant ID involving complex deficits and autism. To our knowledge, this is the first report of a patient with the 17q12 microduplication and a complex ASD phenotype.
KW - 17q12 microduplication
KW - Array CGH
KW - Autism
KW - Recurrent rearrangement
UR - http://www.scopus.com/inward/record.url?scp=84859961275&partnerID=8YFLogxK
U2 - 10.1002/ajmg.a.35267
DO - 10.1002/ajmg.a.35267
M3 - Article
C2 - 22488896
AN - SCOPUS:84859961275
SN - 1552-4825
VL - 158 A
SP - 1170
EP - 1177
JO - American Journal of Medical Genetics, Part A
JF - American Journal of Medical Genetics, Part A
IS - 5
ER -