Could a chimeric condition be responsible for unexpected genetic syndromes? The role of the single nucleotide polymorphism-array analysis

Molecular Genetics & Genomic Medicine
Roberta BottegaVanna Pecile

Abstract

In this paper, is reported the identification of two chimeric patients, a rare finding if sexual abnormalities are absent. However, their chimeric condition is responsible at least for the Silver-Russell phenotype observed in one of the two patients. By single nucleotide polymorphism-array analyses, it was possible to clearly define the mechanism responsible for this unusual finding, underlining the importance of this technique in bringing out the perhaps submerged world of chimeras.

References

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May 24, 2005·Journal of Medical Genetics·K A Kaiser-RogersW P Robinson
Oct 10, 2006·Clinical Genetics·V MalanC Turleau
Jan 22, 2009·Annals of the New York Academy of Sciences·M RamsayT de Ravel
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Methods Mentioned

BETA
biopsies
Chip
biopsy
genotyping

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