Long term follow-up in a patient with a de novo microdeletion of 14q11.2 involving CHD8.

Drabova, Jana; Seemanova, Eva; Hancarova, Miroslava; Pourova, Radka; Horacek, Martin; Jancuskova, Tereza; Pekova, Sona; Novotna, Drahuse; Sedlacek, Zdenek

Drabova, Jana; Seemanova, Eva; Hancarova, Miroslava; Pourova, Radka; Horacek, Martin; Jancuskova, Tereza; Pekova, Sona; Novotna, Drahuse; Sedlacek, Zdenek.

Affiliation

Drabova J; Department of Biology and Medical Genetics, Charles University 2nd Faculty of Medicine and University Hospital Motol, Prague, Czech Republic.

Am J Med Genet A ; 167A(4): 837-41, 2015 Apr.

Article in En | MEDLINE | ID: mdl-25735987

Subject(s)

Abnormalities, Multiple/diagnosis; Chromosome Deletion; Chromosomes, Human, Pair 14/genetics; DNA-Binding Proteins/genetics; Transcription Factors/genetics; Abnormalities, Multiple/genetics; Adolescent; Developmental Disabilities/diagnosis; Developmental Disabilities/genetics; Follow-Up Studies; Humans; Intellectual Disability/diagnosis; Intellectual Disability/genetics; Male; Megalencephaly/diagnosis; Megalencephaly/genetics

Key words

CHD8; Microdeletion 14q11.2; SUPT16H; intellectual disability; macrocephaly; orthognathic deformities

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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Transcription Factors / Abnormalities, Multiple / Chromosomes, Human, Pair 14 / Chromosome Deletion / DNA-Binding Proteins Type of study: Diagnostic_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limits: Adolescent / Humans / Male Language: En Journal: Am J Med Genet A Journal subject: GENETICA MEDICA Year: 2015 Document type: Article Affiliation country: Czech Republic

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