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A new strategy for cryptic telomeric translocation screening in patients with idiopathic mental retardation.
Ghaffari S, Boyd E, Tolmie J, Crow YJ, Trainer A, Connor J
J Med Genet. 1998;35( 3):225-33.
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Abstract
Cryptic unbalanced chromosome rearrangements in the telomeric bands of human chromosomes constitute a significant cause of "idiopathic" mental retardation. Here, we have described a new strategy based upon comparative genomic hybridisation (CGH) to screen for these abnormalities. A modified CGH analysis showed three unbalanced cryptic rearrangements in five patients from three families. These chromosome abnormalities and their balanced forms in the relatives were then confirmed by fluorescence in situ hybridisation (FISH). This study describes a new approach to the diagnosis of cryptic translocations between the G band negative ends of chromosomes and confirms the significant contribution of cryptic telomeric rearrangements to idiopathic mental retardation.
Keyword(s)
Child, Preschool; Female; Genetic Screening; Humans; Image Processing, Computer-Assisted; In Situ Hybridization, Fluorescence; Infant; Male; Metaphase; Nucleic Acid Hybridization; Translocation, Genetic; genetics: Mental Retardation; genetics: Telomere