Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size
BackgroundDeletion and the reciprocal duplication in 16p11.2 were recently associated with autism and developmental delay.MethodWe indentified 27 deletions and 18 duplications of 16p11.2 were identified in 0.6% of all samples submitted for clinical array-CGH (comparative genomic hybridisation) analy...
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| Published in | Journal of medical genetics Vol. 47; no. 5; pp. 332 - 341 |
|---|---|
| Main Authors | , , , , , , , , , , , , , , , , , , , , , , , , , , , |
| Format | Journal Article |
| Language | English |
| Published |
London
BMJ Publishing Group Ltd
01.05.2010
BMJ Publishing Group BMJ Publishing Group LTD |
| Subjects | |
| Online Access | Get full text |
| ISSN | 0022-2593 1468-6244 1468-6244 |
| DOI | 10.1136/jmg.2009.073015 |
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| Abstract | BackgroundDeletion and the reciprocal duplication in 16p11.2 were recently associated with autism and developmental delay.MethodWe indentified 27 deletions and 18 duplications of 16p11.2 were identified in 0.6% of all samples submitted for clinical array-CGH (comparative genomic hybridisation) analysis. Detailed molecular and phenotypic characterisations were performed on 17 deletion subjects and ten subjects with the duplication.ResultsThe most common clinical manifestations in 17 deletion and 10 duplication subjects were speech/language delay and cognitive impairment. Other phenotypes in the deletion patients included motor delay (50%), seizures (∼40%), behavioural problems (∼40%), congenital anomalies (∼30%), and autism (∼20%). The phenotypes among duplication patients included motor delay (6/10), behavioural problems (especially attention deficit hyperactivity disorder (ADHD)) (6/10), congenital anomalies (5/10), and seizures (3/10). Patients with the 16p11.2 deletion had statistically significant macrocephaly (p<0.0017) and 6 of the 10 patients with the duplication had microcephaly. One subject with the deletion was asymptomatic and another with the duplication had a normal cognitive and behavioural phenotype. Genomic analyses revealed additional complexity to the 16p11.2 region with mechanistic implications. The chromosomal rearrangement was de novo in all but 2 of the 10 deletion cases in which parental studies were available. Additionally, 2 de novo cases were apparently mosaic for the deletion in the analysed blood sample. Three de novo and 2 inherited cases were observed in the 5 of 10 duplication patients where data were available.ConclusionsRecurrent reciprocal 16p11.2 deletion and duplication are characterised by a spectrum of primarily neurocognitive phenotypes that are subject to incomplete penetrance and variable expressivity. The autism and macrocephaly observed with deletion and ADHD and microcephaly seen in duplication patients support a diametric model of autism spectrum and psychotic spectrum behavioural phenotypes in genomic sister disorders. |
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| AbstractList | Deletion and the reciprocal duplication in 16p11.2 were recently associated with autism and developmental delay.
We indentified 27 deletions and 18 duplications of 16p11.2 were identified in 0.6% of all samples submitted for clinical array-CGH (comparative genomic hybridisation) analysis. Detailed molecular and phenotypic characterisations were performed on 17 deletion subjects and ten subjects with the duplication.
The most common clinical manifestations in 17 deletion and 10 duplication subjects were speech/language delay and cognitive impairment. Other phenotypes in the deletion patients included motor delay (50%), seizures ( approximately 40%), behavioural problems ( approximately 40%), congenital anomalies ( approximately 30%), and autism ( approximately 20%). The phenotypes among duplication patients included motor delay (6/10), behavioural problems (especially attention deficit hyperactivity disorder (ADHD)) (6/10), congenital anomalies (5/10), and seizures (3/10). Patients with the 16p11.2 deletion had statistically significant macrocephaly (p<0.0017) and 6 of the 10 patients with the duplication had microcephaly. One subject with the deletion was asymptomatic and another with the duplication had a normal cognitive and behavioural phenotype. Genomic analyses revealed additional complexity to the 16p11.2 region with mechanistic implications. The chromosomal rearrangement was de novo in all but 2 of the 10 deletion cases in which parental studies were available. Additionally, 2 de novo cases were apparently mosaic for the deletion in the analysed blood sample. Three de novo and 2 inherited cases were observed in the 5 of 10 duplication patients where data were available.
Recurrent reciprocal 16p11.2 deletion and duplication are characterised by a spectrum of primarily neurocognitive phenotypes that are subject to incomplete penetrance and variable expressivity. The autism and macrocephaly observed with deletion and ADHD and microcephaly seen in duplication patients support a diametric model of autism spectrum and psychotic spectrum behavioural phenotypes in genomic sister disorders. BackgroundDeletion and the reciprocal duplication in 16p11.2 were recently associated with autism and developmental delay.MethodWe indentified 27 deletions and 18 duplications of 16p11.2 were identified in 0.6% of all samples submitted for clinical array-CGH (comparative genomic hybridisation) analysis. Detailed molecular and phenotypic characterisations were performed on 17 deletion subjects and ten subjects with the duplication.ResultsThe most common clinical manifestations in 17 deletion and 10 duplication subjects were speech/language delay and cognitive impairment. Other phenotypes in the deletion patients included motor delay (50%), seizures (∼40%), behavioural problems (∼40%), congenital anomalies (∼30%), and autism (∼20%). The phenotypes among duplication patients included motor delay (6/10), behavioural problems (especially attention deficit hyperactivity disorder (ADHD)) (6/10), congenital anomalies (5/10), and seizures (3/10). Patients with the 16p11.2 deletion had statistically significant macrocephaly (p<0.0017) and 6 of the 10 patients with the duplication had microcephaly. One subject with the deletion was asymptomatic and another with the duplication had a normal cognitive and behavioural phenotype. Genomic analyses revealed additional complexity to the 16p11.2 region with mechanistic implications. The chromosomal rearrangement was de novo in all but 2 of the 10 deletion cases in which parental studies were available. Additionally, 2 de novo cases were apparently mosaic for the deletion in the analysed blood sample. Three de novo and 2 inherited cases were observed in the 5 of 10 duplication patients where data were available.ConclusionsRecurrent reciprocal 16p11.2 deletion and duplication are characterised by a spectrum of primarily neurocognitive phenotypes that are subject to incomplete penetrance and variable expressivity. The autism and macrocephaly observed with deletion and ADHD and microcephaly seen in duplication patients support a diametric model of autism spectrum and psychotic spectrum behavioural phenotypes in genomic sister disorders. Deletion and the reciprocal duplication in 16p11.2 were recently associated with autism and developmental delay.BACKGROUNDDeletion and the reciprocal duplication in 16p11.2 were recently associated with autism and developmental delay.We indentified 27 deletions and 18 duplications of 16p11.2 were identified in 0.6% of all samples submitted for clinical array-CGH (comparative genomic hybridisation) analysis. Detailed molecular and phenotypic characterisations were performed on 17 deletion subjects and ten subjects with the duplication.METHODWe indentified 27 deletions and 18 duplications of 16p11.2 were identified in 0.6% of all samples submitted for clinical array-CGH (comparative genomic hybridisation) analysis. Detailed molecular and phenotypic characterisations were performed on 17 deletion subjects and ten subjects with the duplication.The most common clinical manifestations in 17 deletion and 10 duplication subjects were speech/language delay and cognitive impairment. Other phenotypes in the deletion patients included motor delay (50%), seizures ( approximately 40%), behavioural problems ( approximately 40%), congenital anomalies ( approximately 30%), and autism ( approximately 20%). The phenotypes among duplication patients included motor delay (6/10), behavioural problems (especially attention deficit hyperactivity disorder (ADHD)) (6/10), congenital anomalies (5/10), and seizures (3/10). Patients with the 16p11.2 deletion had statistically significant macrocephaly (p<0.0017) and 6 of the 10 patients with the duplication had microcephaly. One subject with the deletion was asymptomatic and another with the duplication had a normal cognitive and behavioural phenotype. Genomic analyses revealed additional complexity to the 16p11.2 region with mechanistic implications. The chromosomal rearrangement was de novo in all but 2 of the 10 deletion cases in which parental studies were available. Additionally, 2 de novo cases were apparently mosaic for the deletion in the analysed blood sample. Three de novo and 2 inherited cases were observed in the 5 of 10 duplication patients where data were available.RESULTSThe most common clinical manifestations in 17 deletion and 10 duplication subjects were speech/language delay and cognitive impairment. Other phenotypes in the deletion patients included motor delay (50%), seizures ( approximately 40%), behavioural problems ( approximately 40%), congenital anomalies ( approximately 30%), and autism ( approximately 20%). The phenotypes among duplication patients included motor delay (6/10), behavioural problems (especially attention deficit hyperactivity disorder (ADHD)) (6/10), congenital anomalies (5/10), and seizures (3/10). Patients with the 16p11.2 deletion had statistically significant macrocephaly (p<0.0017) and 6 of the 10 patients with the duplication had microcephaly. One subject with the deletion was asymptomatic and another with the duplication had a normal cognitive and behavioural phenotype. Genomic analyses revealed additional complexity to the 16p11.2 region with mechanistic implications. The chromosomal rearrangement was de novo in all but 2 of the 10 deletion cases in which parental studies were available. Additionally, 2 de novo cases were apparently mosaic for the deletion in the analysed blood sample. Three de novo and 2 inherited cases were observed in the 5 of 10 duplication patients where data were available.Recurrent reciprocal 16p11.2 deletion and duplication are characterised by a spectrum of primarily neurocognitive phenotypes that are subject to incomplete penetrance and variable expressivity. The autism and macrocephaly observed with deletion and ADHD and microcephaly seen in duplication patients support a diametric model of autism spectrum and psychotic spectrum behavioural phenotypes in genomic sister disorders.CONCLUSIONSRecurrent reciprocal 16p11.2 deletion and duplication are characterised by a spectrum of primarily neurocognitive phenotypes that are subject to incomplete penetrance and variable expressivity. The autism and macrocephaly observed with deletion and ADHD and microcephaly seen in duplication patients support a diametric model of autism spectrum and psychotic spectrum behavioural phenotypes in genomic sister disorders. Background Deletion and the reciprocal duplication in 16p11.2 were recently associated with autism and developmental delay. Method We indentified 27 deletions and 18 duplications of 16p11.2 were identified in 0.6% of all samples submitted for clinical array-CGH (comparative genomic hybridisation) analysis. Detailed molecular and phenotypic characterisations were performed on 17 deletion subjects and ten subjects with the duplication. Results The most common clinical manifestations in 17 deletion and 10 duplication subjects were speech/language delay and cognitive impairment. Other phenotypes in the deletion patients included motor delay (50%), seizures (∼40%), behavioural problems (∼40%), congenital anomalies (∼30%), and autism (∼20%). The phenotypes among duplication patients included motor delay (6/10), behavioural problems (especially attention deficit hyperactivity disorder (ADHD)) (6/10), congenital anomalies (5/10), and seizures (3/10). Patients with the 16p11.2 deletion had statistically significant macrocephaly (p<0.0017) and 6 of the 10 patients with the duplication had microcephaly. One subject with the deletion was asymptomatic and another with the duplication had a normal cognitive and behavioural phenotype. Genomic analyses revealed additional complexity to the 16p11.2 region with mechanistic implications. The chromosomal rearrangement was de novo in all but 2 of the 10 deletion cases in which parental studies were available. Additionally, 2 de novo cases were apparently mosaic for the deletion in the analysed blood sample. Three de novo and 2 inherited cases were observed in the 5 of 10 duplication patients where data were available. Conclusions Recurrent reciprocal 16p11.2 deletion and duplication are characterised by a spectrum of primarily neurocognitive phenotypes that are subject to incomplete penetrance and variable expressivity. The autism and macrocephaly observed with deletion and ADHD and microcephaly seen in duplication patients support a diametric model of autism spectrum and psychotic spectrum behavioural phenotypes in genomic sister disorders. Background Deletion and the reciprocal duplication in 16p11.2 were recently associated with autism and developmental delay. Method We indentified 27 deletions and 18 duplications of 16p11.2 were identified in 0.6% of all samples submitted for clinical array-CGH (comparative genomic hybridisation) analysis. Detailed molecular and phenotypic characterisations were performed on 17 deletion subjects and ten subjects with the duplication. Results The most common clinical manifestations in 17 deletion and 10 duplication subjects were speech/language delay and cognitive impairment. Other phenotypes in the deletion patients included motor delay (50%), seizures (â^¼40%), behavioural problems (â^¼40%), congenital anomalies (â^¼30%), and autism (â^¼20%). The phenotypes among duplication patients included motor delay (6/10), behavioural problems (especially attention deficit hyperactivity disorder (ADHD)) (6/10), congenital anomalies (5/10), and seizures (3/10). Patients with the 16p11.2 deletion had statistically significant macrocephaly (p<0.0017) and 6 of the 10 patients with the duplication had microcephaly. One subject with the deletion was asymptomatic and another with the duplication had a normal cognitive and behavioural phenotype. Genomic analyses revealed additional complexity to the 16p11.2 region with mechanistic implications. The chromosomal rearrangement was de novo in all but 2 of the 10 deletion cases in which parental studies were available. Additionally, 2 de novo cases were apparently mosaic for the deletion in the analysed blood sample. Three de novo and 2 inherited cases were observed in the 5 of 10 duplication patients where data were available. Conclusions Recurrent reciprocal 16p11.2 deletion and duplication are characterised by a spectrum of primarily neurocognitive phenotypes that are subject to incomplete penetrance and variable expressivity. The autism and macrocephaly observed with deletion and ADHD and microcephaly seen in duplication patients support a diametric model of autism spectrum and psychotic spectrum behavioural phenotypes in genomic sister disorders. |
| Author | Lee, Jennifer Kang, Sung-Hae L Amato, Stephen Stankiewicz, Pawel Roeder, Elizabeth R Cheung, Sau Wai Probst, Frank J Scott, Daryl A Craigen, William J Rodriguez, Diana L Kozel, Beth A Patel, Ankita Proud, Monica Clark, Gary Lupski, James R Liu, Pengfei Beaudet, Arthur L Allison, Leslie J Belmont, John W Kurczynski, Thaddeus W Graham, Brett H Shinawi, Marwan Sparagana, Steven Pursley, Amber McGrew, Susan G Savage, Sarah Shen, Joseph Stocco, Amber |
| AuthorAffiliation | 2 Texas Children’s Hospital, Houston, Texas, USA 13 Department of Pediatrics, Baylor College of Medicine, Houston, Texas, USA 12 Department of Medical Genetics, Institute of Mother and Child, Warsaw, Poland 6 Department of Neurology, Texas Scottish Rite Hospital for Children and the University of Texas Southwestern Medical Center, Dallas, Texas, USA 1 Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA 3 Children’s Hospital Central California, Madera, California, USA 9 Department of Pediatrics, Akron Children’s Hospital, Akron, Ohio, USA 4 Section of Neurology, Department of Pediatrics, Texas Children’s Hospital, Houston, Texas, USA 7 Department of Pediatrics, Division of Genetics and Metabolic Disorders, University of Texas Health Science Center at San Antonio, San Antonio, Texas, USA 11 Department of Medical Genetics, Eastern Maine Medical Center, Bangor, Maine, USA 10 Monarch Medical Clinic, Katy, Texas, USA 5 Division of Genetics and Genomic Medicine, W |
| AuthorAffiliation_xml | – name: 9 Department of Pediatrics, Akron Children’s Hospital, Akron, Ohio, USA – name: 4 Section of Neurology, Department of Pediatrics, Texas Children’s Hospital, Houston, Texas, USA – name: 10 Monarch Medical Clinic, Katy, Texas, USA – name: 3 Children’s Hospital Central California, Madera, California, USA – name: 12 Department of Medical Genetics, Institute of Mother and Child, Warsaw, Poland – name: 2 Texas Children’s Hospital, Houston, Texas, USA – name: 5 Division of Genetics and Genomic Medicine, Washington University School of Medicine, St. Louis, Missouri, USA – name: 6 Department of Neurology, Texas Scottish Rite Hospital for Children and the University of Texas Southwestern Medical Center, Dallas, Texas, USA – name: 7 Department of Pediatrics, Division of Genetics and Metabolic Disorders, University of Texas Health Science Center at San Antonio, San Antonio, Texas, USA – name: 13 Department of Pediatrics, Baylor College of Medicine, Houston, Texas, USA – name: 8 Department of Pediatrics, Monroe Carell Jr. Children’s Hospital at Vanderbilt, Vanderbilt University School of Medicine, Nashville, Tennessee, USA – name: 1 Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA – name: 11 Department of Medical Genetics, Eastern Maine Medical Center, Bangor, Maine, USA |
| Author_xml | – sequence: 1 givenname: Marwan surname: Shinawi fullname: Shinawi, Marwan email: scheung@bcm.tmc.edu organization: Texas Children's Hospital, Houston, Texas, USA – sequence: 2 givenname: Pengfei surname: Liu fullname: Liu, Pengfei email: scheung@bcm.tmc.edu organization: Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA – sequence: 3 givenname: Sung-Hae L surname: Kang fullname: Kang, Sung-Hae L email: scheung@bcm.tmc.edu organization: Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA – sequence: 4 givenname: Joseph surname: Shen fullname: Shen, Joseph email: scheung@bcm.tmc.edu organization: Children's Hospital Central California, Madera, California, USA – sequence: 5 givenname: John W surname: Belmont fullname: Belmont, John W email: scheung@bcm.tmc.edu organization: Texas Children's Hospital, Houston, Texas, USA – sequence: 6 givenname: Daryl A surname: Scott fullname: Scott, Daryl A email: scheung@bcm.tmc.edu organization: Texas Children's Hospital, Houston, Texas, USA – sequence: 7 givenname: Frank J surname: Probst fullname: Probst, Frank J email: scheung@bcm.tmc.edu organization: Texas Children's Hospital, Houston, Texas, USA – sequence: 8 givenname: William J surname: Craigen fullname: Craigen, William J email: scheung@bcm.tmc.edu organization: Texas Children's Hospital, Houston, Texas, USA – sequence: 9 givenname: Brett H surname: Graham fullname: Graham, Brett H email: scheung@bcm.tmc.edu organization: Texas Children's Hospital, Houston, Texas, USA – sequence: 10 givenname: Amber surname: Pursley fullname: Pursley, Amber email: scheung@bcm.tmc.edu organization: Texas Children's Hospital, Houston, Texas, USA – sequence: 11 givenname: Gary surname: Clark fullname: Clark, Gary email: scheung@bcm.tmc.edu organization: Section of Neurology, Department of Pediatrics, Texas Children's Hospital, Houston, Texas, USA – sequence: 12 givenname: Jennifer surname: Lee fullname: Lee, Jennifer email: scheung@bcm.tmc.edu organization: Section of Neurology, Department of Pediatrics, Texas Children's Hospital, Houston, Texas, USA – sequence: 13 givenname: Monica surname: Proud fullname: Proud, Monica email: scheung@bcm.tmc.edu organization: Section of Neurology, Department of Pediatrics, Texas Children's Hospital, Houston, Texas, USA – sequence: 14 givenname: Amber surname: Stocco fullname: Stocco, Amber email: scheung@bcm.tmc.edu organization: Section of Neurology, Department of Pediatrics, Texas Children's Hospital, Houston, Texas, USA – sequence: 15 givenname: Diana L surname: Rodriguez fullname: Rodriguez, Diana L email: scheung@bcm.tmc.edu organization: Section of Neurology, Department of Pediatrics, Texas Children's Hospital, Houston, Texas, USA – sequence: 16 givenname: Beth A surname: Kozel fullname: Kozel, Beth A email: scheung@bcm.tmc.edu organization: Division of Genetics and Genomic Medicine, Washington University School of Medicine, St. Louis, Missouri, USA – sequence: 17 givenname: Steven surname: Sparagana fullname: Sparagana, Steven email: scheung@bcm.tmc.edu organization: Department of Neurology, Texas Scottish Rite Hospital for Children and the University of Texas Southwestern Medical Center, Dallas, Texas, USA – sequence: 18 givenname: Elizabeth R surname: Roeder fullname: Roeder, Elizabeth R email: scheung@bcm.tmc.edu organization: Department of Pediatrics, Division of Genetics and Metabolic Disorders, University of Texas Health Science Center at San Antonio, San Antonio, Texas, USA – sequence: 19 givenname: Susan G surname: McGrew fullname: McGrew, Susan G email: scheung@bcm.tmc.edu organization: Department of Pediatrics, Monroe Carell Jr. Children's Hospital at Vanderbilt, Vanderbilt University School of Medicine, Nashville, Tennessee, USA – sequence: 20 givenname: Thaddeus W surname: Kurczynski fullname: Kurczynski, Thaddeus W email: scheung@bcm.tmc.edu organization: Department of Pediatrics, Akron Children's Hospital, Akron, Ohio, USA – sequence: 21 givenname: Leslie J surname: Allison fullname: Allison, Leslie J email: scheung@bcm.tmc.edu organization: Monarch Medical Clinic, Katy, Texas, USA – sequence: 22 givenname: Stephen surname: Amato fullname: Amato, Stephen email: scheung@bcm.tmc.edu organization: Department of Medical Genetics, Eastern Maine Medical Center, Bangor, Maine, USA – sequence: 23 givenname: Sarah surname: Savage fullname: Savage, Sarah email: scheung@bcm.tmc.edu organization: Department of Medical Genetics, Eastern Maine Medical Center, Bangor, Maine, USA – sequence: 24 givenname: Ankita surname: Patel fullname: Patel, Ankita email: scheung@bcm.tmc.edu organization: Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA – sequence: 25 givenname: Pawel surname: Stankiewicz fullname: Stankiewicz, Pawel email: scheung@bcm.tmc.edu organization: Department of Medical Genetics, Institute of Mother and Child, Warsaw, Poland – sequence: 26 givenname: Arthur L surname: Beaudet fullname: Beaudet, Arthur L email: scheung@bcm.tmc.edu organization: Texas Children's Hospital, Houston, Texas, USA – sequence: 27 givenname: Sau Wai surname: Cheung fullname: Cheung, Sau Wai email: scheung@bcm.tmc.edu organization: Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA – sequence: 28 givenname: James R surname: Lupski fullname: Lupski, James R email: scheung@bcm.tmc.edu organization: Department of Pediatrics, Baylor College of Medicine, Houston, Texas, USA |
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| PublicationDate | 2010-05-01 |
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| PublicationPlace | London |
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| PublicationTitle | Journal of medical genetics |
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7 2025100521145903000_47.5.332.7 2025100521145903000_47.5.332.9 Ou (2025100521145903000_47.5.332.28) 2008; 10 Cheung (2025100521145903000_47.5.332.27) 2005; 7 Lainhart (2025100521145903000_47.5.332.31) 2006; 140 2025100521145903000_47.5.332.29 2025100521145903000_47.5.332.26 2025100521145903000_47.5.332.48 2025100521145903000_47.5.332.25 2025100521145903000_47.5.332.47 2025100521145903000_47.5.332.24 2025100521145903000_47.5.332.46 2025100521145903000_47.5.332.23 Potocki (2025100521145903000_47.5.332.37) 2003; 5 2025100521145903000_47.5.332.45 2025100521145903000_47.5.332.22 Zankl (2025100521145903000_47.5.332.30) 2003; 121A 2025100521145903000_47.5.332.44 2025100521145903000_47.5.332.21 2025100521145903000_47.5.332.43 2025100521145903000_47.5.332.2 2025100521145903000_47.5.332.20 2025100521145903000_47.5.332.42 2025100521145903000_47.5.332.1 2025100521145903000_47.5.332.41 2025100521145903000_47.5.332.40 2025100521145903000_47.5.332.19 2025100521145903000_47.5.332.18 2025100521145903000_47.5.332.17 2025100521145903000_47.5.332.39 2025100521145903000_47.5.332.16 2025100521145903000_47.5.332.15 2025100521145903000_47.5.332.14 2025100521145903000_47.5.332.36 2025100521145903000_47.5.332.13 2025100521145903000_47.5.332.35 2025100521145903000_47.5.332.12 2025100521145903000_47.5.332.34 2025100521145903000_47.5.332.11 2025100521145903000_47.5.332.33 2025100521145903000_47.5.332.10 2025100521145903000_47.5.332.32 |
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| Snippet | BackgroundDeletion and the reciprocal duplication in 16p11.2 were recently associated with autism and developmental delay.MethodWe indentified 27 deletions and... Background Deletion and the reciprocal duplication in 16p11.2 were recently associated with autism and developmental delay. Method We indentified 27 deletions... Deletion and the reciprocal duplication in 16p11.2 were recently associated with autism and developmental delay. We indentified 27 deletions and 18... Deletion and the reciprocal duplication in 16p11.2 were recently associated with autism and developmental delay.BACKGROUNDDeletion and the reciprocal... |
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| SubjectTerms | Abnormalities, Multiple - genetics Adolescent Arrays Artificial chromosomes Attention Deficit Disorder with Hyperactivity - genetics Autism Autistic Disorder - genetics Biological and medical sciences Child Child development Child, Preschool Chromosome Aberrations Chromosome Deletion Chromosomes, Human, Pair 16 - genetics Cloning Comparative Genomic Hybridization copy number variations Craniofacial Abnormalities - genetics Craniofacial Abnormalities - pathology Developmental delay Developmental Disabilities - genetics epilepsy Epilepsy - genetics Female Fundamental and applied biological sciences. Psychology General aspects. Genetic counseling Genetics of eukaryotes. Biological and molecular evolution Genomes Genomics Genotype & phenotype Headache. Facial pains. Syncopes. Epilepsia. Intracranial hypertension. Brain oedema. Cerebral palsy Humans Infant Informed consent Intellectual Disability - genetics Labeling Laboratories Language Development Disorders - genetics macrocephaly and microcephaly Male Medical genetics Medical sciences Microcephaly - genetics Molecular and cellular biology Nervous system (semeiology, syndromes) Neurology Oligonucleotide Array Sequence Analysis Patients Phenotype Segmental Duplications, Genomic Young Adult |
| Title | Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size |
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