Article: article from journal or magazin.
Case report (case report): feedback on an observation with a short commentary.
Subtelomeric rearrangements detected in patients with idiopathic mental retardation.
American Journal of Medical Genetics
Publication types: Journal Article ; Research Support, Non-U.S. Gov'tPublication Status: ppublish
A screening for submicroscopic rearrangements was performed in 111 patients with idiopathic mental retardation (MR) using fluorescence in situ hybridization (FISH) probes from the subtelomeric regions of all chromosome arms. Ten cryptic rearrangements were found (9%): five de novo deletions; one unbalanced de novo translocation; three unbalanced inherited translocations; and one unbalanced recombinant chromosome, inherited from a parent with a pericentric inversion. In addition, 50 of the patients were screened for interstitial rearrangements with spectral karyotyping (SKY), but no aberrations were found. However, SKY detected the subtelomeric rearrangement in three of the four unbalanced translocations. Dysmorphic features were present in all patients with detected subtelomeric rearrangements.
Adolescent, Adult, Child, Child, Preschool, Chromosome Aberrations, Chromosome Painting, DNA Probes, Female, Gene Rearrangement, Humans, In Situ Hybridization, Fluorescence, Infant, Karyotyping, Male, Mental Retardation/etiology, Mental Retardation/genetics, Middle Aged, Telomere
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