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Keywords: Recurrence risk
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Journal Articles
Subject Area:
Genetics
Cytogenet Genome Res (2017) 152 (3): 132–136.
Published Online: 13 September 2017
.... They are usually maternally inherited, increasing the recurrence risk to 50%, and may be missed by conventional testing (methylation studies and UBE3A gene sequencing). We describe a boy with AS due to an 11.7-kb intragenic deletion. The deletion was identified by array-CGH and was subsequently detected in his...