The atypical 16p11.2 deletion: A not so atypical microdeletion syndrome?

One of the recently recognized microdeletion syndromes is the 16p11.2 deletion syndrome (593 kb; ∼29.5 Mb to ∼30.1 Mb), associated with developmental delay, autism spectrum disorder, epilepsy, and obesity. Less frequently reported is a smaller 220 kb deletion, adjacent and distal to this 16p11.2 del...

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Veröffentlicht in:	American journal of medical genetics. Part A 2011-05, Vol.155A (5), p.1066-1072
Hauptverfasser:	Barge-Schaapveld, Daniela Q.C.M., Maas, Saskia M., Polstra, Abeltje, Knegt, Lia C., Hennekam, Raoul C.M.
Format:	Artikel
Sprache:	eng
Schlagworte:	Adolescent Autism Biological and medical sciences Child clinical studies Child, Preschool Chromosome Deletion Chromosomes, Human, Pair 16 developmental delay Developmental disorders distal 16p11.2 Epilepsy Female Headache. Facial pains. Syncopes. Epilepsia. Intracranial hypertension. Brain oedema. Cerebral palsy Humans Infantile autism Male Medical genetics Medical sciences Metabolic diseases microdeletion Nervous system (semeiology, syndromes) Neurology Nucleic Acid Hybridization Obesity Phenotypes Psychology. Psychoanalysis. Psychiatry Psychopathology. Psychiatry Syndrome
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