Cryptic de novo deletion at 2q23.3-q24.1 in a patient with intellectual disability.

Malbin, Jamileh

Cryptic de novo deletion at 2q23.3-q24.1 in a patient with intellectual disability. [electronic resource] - Journal of genetics Jun 2016 - 441-5 p. digital

Publication Type: Case Reports; Journal Article

0973-7731

10.1007/s12041-016-0630-5 doi


Adult
Chromosome Deletion
Chromosomes, Human, Pair 2
Comparative Genomic Hybridization
Female
Humans
Intellectual Disability--diagnosis
Nucleic Acid Amplification Techniques
Pedigree
Seizures--diagnosis
Self-Injurious Behavior--physiopathology
Speech Intelligibility