A de nevo complex t(7;13;8) translocation with a deletion in the TRPS gene region

Molecular cytogenetic analyses have resolved the pathogenetic aberration of an 8-year-old girl with tricho-rhino-phalangeal syndrome type I (TRPS I), normal intelligence, and a karyotype originally described as 46,XX,t(8;13)(q24;q21). R- and Q-banding and high resolution R-banding analyses have also...

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Bibliographic Details
Published in:Human genetics 1997-09, Vol.100 (3-4), p.334-338
Main Authors: Brandt, C A, Lüdecke, H J, Hindkjaer, J, Strømkjaer, H, Pinkel, D, Herlin, T, Bolund, L, Friedrich, U
Format: Article
Language:English
Subjects:
Child
Chromosome Banding
Chromosome Deletion
Chromosomes, Human, Pair 13
Chromosomes, Human, Pair 7
Chromosomes, Human, Pair 8
Female
Humans
Osteochondrodysplasias - genetics
Syndrome
Translocation, Genetic
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Summary:Molecular cytogenetic analyses have resolved the pathogenetic aberration of an 8-year-old girl with tricho-rhino-phalangeal syndrome type I (TRPS I), normal intelligence, and a karyotype originally described as 46,XX,t(8;13)(q24;q21). R- and Q-banding and high resolution R-banding analyses have also disclosed a seemingly mosaic abnormality of the distal short arm of chromosome 7 but have not fully characterized this abnormality. Combined primed in situ labelling and chromosome painting, and three-colour chromosome painting have revealed a complex, apparently balanced translocation t(7;13;8). Fluorescence in situ hybridization with yeast artificial chromosome and cosmid clones from 8q24.1 has shown an interstitial deletion of at least 3 Mb covering most of the TRPS I critical region.
ISSN:0340-6717