Natera-De Benito, Daniel

[Phenotypic variability of the 1q21.1 microdeletion syndrome in members of the same family: relevance of detection of neuropsychiatric disorders for diagnosis of genetic syndromes]. [electronic resource] - Revista de neurologia Dec 2015 - 550-6 p. digital

Publication Type: Case Reports; English Abstract; Journal Article

1576-6578


Adult
Child, Preschool
Chromosome Deletion
Chromosomes, Human, Pair 1--genetics
Comparative Genomic Hybridization
Disruptive, Impulse Control, and Conduct Disorders--genetics
Female
Humans
Hypertelorism--genetics
In Situ Hybridization, Fluorescence
Intellectual Disability--genetics
Male
Pedigree
Penetrance
Phenotype
Syndrome