Postzygotic telomere capture causes segmental UPD, duplication and deletion of chromosome 8p in a patient with intellectual disability and obesity.
Knijnenburg, Jeroen
Postzygotic telomere capture causes segmental UPD, duplication and deletion of chromosome 8p in a patient with intellectual disability and obesity. [electronic resource] - European journal of medical genetics Sep 2017 - 445-450 p. digital
Publication Type: Case Reports; Journal Article
1878-0849
10.1016/j.ejmg.2017.06.003 doi
Child
Chromosome Deletion
Chromosome Disorders--diagnosis
Chromosome Duplication
Chromosomes, Human, Pair 8--genetics
Humans
Intellectual Disability--diagnosis
Male
Obesity--diagnosis
Syndrome
Telomere--genetics
Postzygotic telomere capture causes segmental UPD, duplication and deletion of chromosome 8p in a patient with intellectual disability and obesity. [electronic resource] - European journal of medical genetics Sep 2017 - 445-450 p. digital
Publication Type: Case Reports; Journal Article
1878-0849
10.1016/j.ejmg.2017.06.003 doi
Child
Chromosome Deletion
Chromosome Disorders--diagnosis
Chromosome Duplication
Chromosomes, Human, Pair 8--genetics
Humans
Intellectual Disability--diagnosis
Male
Obesity--diagnosis
Syndrome
Telomere--genetics