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Identification and characterization of a de novo partial trisomy 10p by comparative genomic hybridization (CGH)
Author(s) -
Benzacken B.,
Lapierre JM,
Siffroi JP,
Chalvon A.,
Tachdjian G.
Publication year - 1998
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1034/j.1399-0004.1998.5440412.x
Subject(s) - comparative genomic hybridization , biology , karyotype , fluorescence in situ hybridization , cytogenetics , genetics , chromosome , metaphase , trisomy , derivative chromosome , microbiology and biotechnology , gene
We report the characterization of a de novo unbalanced chromosome rearrangement by comparative genomic hybridization (CGH) in a 15‐day‐old child with hypotonia and dysmorphia. We describe the combined use of CGH and fluorescence in situ hybridization (FISH) to identify the origin of the additional chromosomal material on the short arm of chromosome 6. Investigation with FISH revealed that the excess material was not derived from chromosome 6. Identification of unknown unbalanced aberrations that could not be identified by traditional cytogenetics procedures is possible by CGH analysis. Visual analysis of digital images from CGH‐metaphase spreads revealed a predominantly green signal on the telomeric region of chromosome 10p. After quantitative digital ratio imaging of 10 CGH‐metaphase spreads, a region of gain was found in the chromosome band 10p14‐pter. The CGH finding was confirmed by FISH analysis, using a whole chromosome 10 paint probe. These results show the usefulness of CGH for a rapid characterization of de novo unbalanced translocation, unidentifiable by karyotype alone.