Abstract
before and after birth, mental retardation, developmental delay, cardiac anomalies, minor anomalies of genitalia in boys, abnormal skin pigmentation and dysmorphic features. Array comparative genomic hybridization (CGH) analysis has recently become a widely used method for detecting DNA copy number changes, in place of traditional karyotype analysis. In particular, an international consensus statement has now recommended array CGH as a first-line test in patients with unexplained developmental delay, intellectual disability and dysmorphisms. However, the ability of array CGH is limited in case of low-level mosaicism. Here, we report the detailed clinical and cytogenetic findings of the first case in Korea to show lowfrequency mosaicism of trisomy 14, diagnosed by array CGH analysis supplemented with karyotyping. Low-frequency Mosaicism of Trisomy 14, Missed by Array CGH
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