FISH and array-CGH analysis of a complex chromosome 3 aberration suggests that loss of CNTN4 and CRBN contributes to mental retardation in 3pter deletions.

Dijkhuizen, Trijnie

FISH and array-CGH analysis of a complex chromosome 3 aberration suggests that loss of CNTN4 and CRBN contributes to mental retardation in 3pter deletions. [electronic resource] - American journal of medical genetics. Part A Nov 2006 - 2482-7 p. digital

Publication Type: Case Reports; Journal Article

1552-4825

10.1002/ajmg.a.31487 doi


Adaptor Proteins, Signal Transducing
Adult
Cell Adhesion Molecules
Cell Adhesion Molecules, Neuronal--genetics
Chromosome Aberrations
Chromosome Deletion
Chromosomes, Human, Pair 3--genetics
Contactins
Cytogenetics
Female
Gene Dosage
Humans
In Situ Hybridization, Fluorescence
Intellectual Disability--genetics
Membrane Proteins--genetics
Oligonucleotide Array Sequence Analysis
Peptide Hydrolases--genetics
Phenotype
Ubiquitin-Protein Ligases