Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size - Shinawi, Marwan; Liu, Pengfei; Kang, Sung-Hae L; Shen, Joseph; Belmont, John W; Scott, Daryl A; Probst, Frank J; Craigen, William J; Graham, Brett H; Pursley, Amber; Clark, Gary; Lee, Jennifer; et al. (Journal of medical genetics, 2010)
Keywords: 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; United States--US; California; Human; Nervous system diseases; Relapse; Head; Epilepsy; Size; Developmental disorder; Recurrent; Cerebral disorder; Behavioral disorder; Dysmorphism; Malformation; Central nervous system disease; Genetics