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    題名: Short rib-polydactyly syndrome type II (Majewski): prenatal diagnosis, perinatal imaging findings and molecular genetic analysis
    作者: 陳持平;Chen, Chih-Ping
    貢獻者: 生物科技學系
    關鍵詞: NEK1;prenatal diagnosis;type II short rib-polydactyly syndrome (Majewski);ultrasound
    日期: 2012-03
    上傳時間: 2012-11-23 17:17:37 (UTC+8)
    摘要: "Objective: To demonstrate perinatal imaging findings and to investigate the mutation in the NEK1 gene in a fetus with type II short ribpolydactyly syndrome (SRPS) (Majewski).
    Case Report: A 34-year-old woman with a past history of fetal SRPS was referred to the hospital at 16 weeks of gestation because of sonographic
    diagnosis of short limbs in the fetus. Fetal ultrasound revealed short ribs, short limbs, absence of tibiae, polydactyly, syndactyly and choroid
    plexus cysts. At 21 weeks of gestation, polycystic kidneys were found. The pregnancy was terminated, and a fetus was delivered with facial
    dysmorphism, a median cleft lip, a narrow chest, micromelia, aplasia of tibiae, hypoplastic nails, syndactyly and postaxial polydactyly. The
    karyotype was 46,XX. Molecular analysis of fetal tissues showed a paternal-origin heterozygous splice site mutation in intron 7 (c.465-1 G>A)
    in the NEK1 gene, but no mutations in the genes of WDR35, DYNC2H1, IFT80, EVC and EVC2. The NEK1 mutation causes an alteration of the
    splice acceptor site of intron 7 (IVS7-1 G>A). No second mutation was identified.
    Conclusion: Tibial aplasia, choroid plexus cysts and polycystic kidneys can be prominent prenatal ultrasound findings of type II SRPS. The
    present case provides evidence for a correlation of NEK1 mutation with type II SRPS.
    Copyright 2012, Taiwan Association of Obstetrics & Gynecology. Published by Elsevier Taiwan LLC. All rights reserved."
    關聯: Taiwanese Journal of Obstetrics & Gynecology
    顯示於類別:[生物科技學系] 期刊論文


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