Stegmann, A P A

Prospective screening of patients with unexplained mental retardation using subtelomeric MLPA strongly increases the detection rate of cryptic unbalanced chromosomal rearrangements. [electronic resource] - European journal of medical genetics - 93-105 p. digital

Publication Type: Journal Article

1769-7212

10.1016/j.ejmg.2007.10.003 doi


Adolescent
Adult
Child
Child, Preschool
Chromosome Deletion
Female
Gene Duplication
Gene Rearrangement
Genetic Testing
Humans
In Situ Hybridization, Fluorescence
Infant
Infant, Newborn
Intellectual Disability--diagnosis
Karyotyping
Ligase Chain Reaction
Male
Molecular Probe Techniques
Nucleic Acid Amplification Techniques
Prospective Studies
Telomere--genetics
Translocation, Genetic