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See Latest ArticlesSubmicroscopic chromosomal imbalances in idiopathic Silver-Russell syndrome (SRS): the SRS phenotype overlaps with the 12q14 microdeletion syndrome
Journal of Medical Genetics, 09/22/09
Spengler S et al. – The results exclude a common cryptic chromosomal imbalance in idiopathic SRS patients but show that chromosomal aberrations are relevant in this disease. Thus molecular karyotyping is indicated in SRS and should be included in the diagnostic algorithm.
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