TITLE

Multiplex FISH telomere integrity assay identifies an unbalanced cryptic translocation der(5)t(3;5)(q27;p15.3) in a family with three mentally retarded individuals

AUTHOR(S)
Granzow, Martin; Popp, Susanne; Keller, Monika; Holtgreve-Grez, Heidi; Brough, Michaela; Schoell, Brigitte; Rauterberg-Ruland, Inge; Hager, Hans-Dieter; Tariverdian, Gholamali; Jauch, Anna
PUB. DATE
July 2000
SOURCE
Human Genetics;Jul2000, Vol. 107 Issue 1, p51
SOURCE TYPE
Academic Journal
DOC. TYPE
Article
ABSTRACT
Cryptic rearrangements involving the terminal regions of chromosomes are suspected to be the cause of idiopathic mental retardation in a significant number of cases. This finding highlights the necessity of a primary screening test for such chromosome aberrations. Here we present a multiplex fluorescence in situ hybridization telomere integrity assay which allows the detection of submicroscopic aberrations in the telomeric regions of all chromosomes. This novel approach identified an unbalanced cryptic translocation der(5)t(3;5)(q27;p15.3) in a family with three cases of unexplained mental retardation and dysmorphic features. The symptoms of the patients represent neither the classical dup(3q)- nor cri du chat syndrome, although all affected individuals demonstrate several features of both syndromes. The identification of two balanced translocation carriers emphasizes the significance of the telomere integrity assay for genetic counseling and prenatal diagnosis
ACCESSION #
16115043

 

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