Branchiootorenal syndrome and oculoauriculovertebral spectrum features associated with duplication of<i>SIX1</i>,<i>SIX6</i>, and<i>OTX2</i>resulting from a complex chromosomal rearrangement

Abstract excerpt

We report on a 26-month-old boy with developmental delay and multiple congenital anomalies, including many features suggestive of either branchiootorenal syndrome (BOR) or oculoauriculovertebral spectrum (OAVS). Chromosomal microarray analysis (CMA) initially revealed a copy-number gain with a single BAC clone (RP11-79M1) mapping to 14q23.1. FISH analysis showed that the third copy of this genomic region was...

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