Identification of a patient with intellectual disability and de novo 3.7 Mb deletion supports the existence of a novel microdeletion syndrome in 2p14-p15.

Hancarova, Miroslava

Identification of a patient with intellectual disability and de novo 3.7 Mb deletion supports the existence of a novel microdeletion syndrome in 2p14-p15. [electronic resource] - Gene Mar 2013 - 158-61 p. digital

Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't

1879-0038

10.1016/j.gene.2012.12.027 doi


Abnormalities, Multiple--genetics
Child, Preschool
Chromosome Deletion
Chromosomes, Human, Pair 2--genetics
Gene Deletion
Gene Dosage
Humans
In Situ Hybridization, Fluorescence
Intellectual Disability--diagnosis
Karyotype
Male
Microcephaly--genetics
Phenotype
Polymorphism, Single Nucleotide
Syndrome