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The authors present a case of prenatally diagnosed fetal terminal 4q deletion in the cytoband 4q33q35.2, inherited from the mother. The index pregnancy was referred at 28+2 weeks of gestation for polyhdramnios. Prior to performing the scan, distinctive facial features were noted in the mother. Target scan confirmed polyhdramnios, and revealed fetal retrognathia. The fetal karyotype reported a terminal...
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