Abstract
What's already known about this topic? Single nucleotide polymorphism (SNP) array detects submicroscopic chromosome aberrations that can be missed by karyotyping. Isochromosome i(X)(p10) is supposed to be lethal if it does not contain the X-inactivation center and has never been detected. What does this study add? Low-level mosaicism is an underestimated cause of congenital anomalies: A low-level mosaicism of an isochromosome Xp was found in a fetus with hygroma colli. SNP array can reveal the real percentage of abnormal cells in uncultured material in contrast to karyotyping that is (highly) influenced by the culture selection, and therefore, SNP array on uncultured material should be the preferred technique for prenatal diagnosis.
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