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]
Producer: 20130325Description: 158-61 p. digitalISSN:- 1879-0038
- 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
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Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
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