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Key Clinical Message  We present prenatal diagnosis of a case with a rare de novo interstitial deletion of 1q21‐q25.1 by oligo array  CGH  and provide detailed information on unbalanced gene content and the breakpoints. The affected fetus was delivered at 37 weeks’ gestation with a unique clinical phenotype.

Prenatal diagnosis of a rare de novo 1q22‐q25.1 chromosomal deletion syndrome using oligo array CGH