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
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