Ring 21 chromosome presenting with epilepsy and intellectual disability: clinical report and review of the literature
Am J Med Genet A
.
2011 Apr;155A(4):911-4.
doi: 10.1002/ajmg.a.33899.
Epub 2011 Mar 15.
Authors
Nicola Specchio
1
,
Antonio Carotenuto
,
Marina Trivisano
,
Simona Cappelletti
,
Cristina Digilio
,
Rossella Capolino
,
Matteo Di Capua
,
Lucia Fusco
,
Federico Vigevano
Affiliation
1
Division of Neurology, Bambino Gesù Children’s Hospital IRCCS, Rome, Italy. nicola.specchio@opbg.net
PMID:
21595005
DOI:
10.1002/ajmg.a.33899
No abstract available
Publication types
Case Reports
Review
MeSH terms
Adolescent
Chromosomes, Human, Pair 21 / genetics
Electroencephalography
Epilepsy / diagnosis
Epilepsy / genetics*
Humans
Intellectual Disability / genetics*
Male
Phenotype
Ring Chromosomes
Supplementary concepts
Chromosome 21 ring