Prenatal diagnosis of 9q34.3 microdeletion-associated Kleefstra syndrome in a pregnancy complicated by polyhydramnios: A case report and literature review

Objective: Kleefstra Syndrome (KS) is a rare genetic disorder caused by a deletion at 9q34.3. Studies showed that various heart defects are observed in 41-43% of patients and abnormal features on brain imaging in 58-63%. To date, the prenatal phenotype in KS has yet to be defined. Case report: We pr...

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Main Authors: Yi-Yun Tai (Author), Chih-Ling Chen (Author), Chen-Tu Wu (Author), Chien-Nan Lee (Author), Shin-Yu Lin (Author)
Format: Book
Published: Elsevier, 2024-11-01T00:00:00Z.
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