Valetto, Angelo

Molecular cytogenetic characterization of an interstitial deletion of chromosome 21 (21q22.13q22.3) in a patient with dysmorphic features, intellectual disability and severe generalized epilepsy. [electronic resource] - European journal of medical genetics May 2012 - 362-6 p. digital

Publication Type: Case Reports; Journal Article

1878-0849

10.1016/j.ejmg.2012.03.011 doi


Abnormalities, Multiple--diagnosis
Child
Chromosomes, Human, Pair 21--genetics
Comparative Genomic Hybridization
Epilepsy, Generalized--diagnosis
Humans
Intellectual Disability--diagnosis
Male
Microcephaly--diagnosis
Monosomy--diagnosis