Taiwanese Journal of Obstetrics and Gynecology
Volume 48, Issue 4 , Pages 408-411 , December 2009

Prenatal Diagnosis of Monosomy 17p (17p 13.3 → pter) Associated With Polyhydramnios, Intrauterine Growth Restriction, Ventriculomegaly, and Miller-Dieker Lissencephaly Syndrome in a Fetus

  • Chin-Yi Lin

      Affiliations

    • Institute of Medicine, Chung Shan Medical University, Taichung, Taiwan
    • Department of Obstetrics and Gynecology, Chung Shan Medical University Hospital, Taichung, Taiwan
    • Division of Genetics, Department of Pediatrics, Chung Shan University Hospital, Taichung, Taiwan
    • ,
  • Chih-Ping Chen

      Affiliations

    • Department of Obstetrics and Gynecology, Taipei, Taiwan
    • Department of Medical Research, Mackay Memorial Hospital, Taipei, Taiwan
    • Department of Biotechnology, Asia University, Taichung, Taiwan
    • Department of School of Chinese Medicine, College of Chinese Medicine, China Medical University, Taichung, Taiwan
    • Institute of Clinical and Community Health Nursing, Taipei, Taiwan
    • Department of Obstetrics and Gynecology, School of Medicine, National Yang-Ming University, Taipei, Taiwan
    • Corresponding Author InformationCorrespondence to: Dr Chih-Ping Chen, Department of Obstetrics and Gynecology, Mackay Memorial Hospital, 92, Section 2, Chung-Shan North Road, Taipei, Taiwan
    • ,
  • Chiung-Ling Liau

      Affiliations

    • Department of Obstetrics and Gynecology, Chung Shan Medical University Hospital, Taichung, Taiwan
    • ,
  • Pen-Hua Su

      Affiliations

    • Division of Genetics, Department of Pediatrics, Chung Shan University Hospital, Taichung, Taiwan
    • Department of Pediatrics, Chung Shan University Hospital, Taichung, Taiwan
    • ,
  • Teng-Fu Tsao

      Affiliations

    • Department of Medical Imaging, Chung Shan Medical University Hospital, Taichung, Taiwan
    • School of Medical Imaging and Radiological Sciences, Chung Shan Medical University, Taichung, Taiwan
    • ,
  • Tung-Yao Chang

      Affiliations

    • Taiji Fetal Medicine Center, Taipei, Taiwan
    • ,
  • Wayseen Wang

      Affiliations

    • Department of Medical Research, Mackay Memorial Hospital, Taipei, Taiwan
    • Department of Bioengineering, Tatung University, Taipei, Taiwan

,Accepted 12 August 2009.

References 

  1. Reiner O , Carrozzo R , Shen Y , et al.   Isolation of a Miller-Dieker lissencephaly gene containing G protein β-subunit-like repeats . Nature . 1993;364:717–721
  2. Cardoso C , Leventer RJ , Ward HL , et al.   Refinement of a 400-kb critical region allows genotypic differentiation between isolated lissencephaly, Miller-Dieker syndrome, and other phenotypes secondary to deletions of 17p13.3 . Am J Hum Genet . 2003;72:918–930
  3. Jones KL . Miller-Dieker syndrome . In:  Jones KL editors. Smith's Recognizable Patterns of Human Malformation . Philadelphia: Elsevier Saunders; 2006;p. 208–209
  4. Chen CP . Chromosomal abnormalities associated with omphalocele . Taiwan J Obstet Gynecol . 2007;46:1–8
  5. Chen CP . Syndromes, disorders and maternal risk factors associated with neural tube defects (V) . Taiwan J Obstet Gynecol . 2008;47:259–266
  6. Fong KW , Ghai S , Toi A , Blaser S , Winsor EJ , Chitayat D . Prenatal ultrasound findings of lissencephaly associated with Miller-Dieker syndrome and comparison with pre-and postnatal magnetic resonance imaging . Ultrasound Obstet Gynecol . 2004;24:716–723
  7. Ghai S , Fong KW , Toi A , Chitayat D , Pantazi S , Blaser S . Prenatal US and MR imaging findings of lissencephaly: review of fetal cerebral sulcal development . Radiographics . 2006;26:389–405
  8. Greenberg F, Courtney KB, Wessels RA, Huhta J, Carpenter RJ, Rich DC, et al. Prenatal diagnosis of deletion 17p13 associated with DiGeorge anomaly . Am J Med Genet . 1988;31:1–4
  9. Saltzman DH , Krauss CM , Goldman JM , Benacerraf BR . Prenatal diagnosis of lissencephaly . Prenat Diagn . 1991;11:139–143
  10. Blaas HG , Eik-Nes SH , Kiserud T , van der Hagen CB , Smedvig E . Lissencephaly, type I . Available at: http://www.thefetus.net/page.php?id=125 [Date accessed: 31 July 2009]
  11. Okamura K , Murotsuki J , Sakai T , Matsumoto K , Shirane R , Yajima A . Prenatal diagnosis of lissencephaly by magnetic resonance image . Fetal Diagn Ther . 1993;8:56–59
  12. McGahan JP , Grix A , Gerscovich EO . Prenatal diagnosis of lissencephaly: Miller-Dieker syndrome . J Clin Ultrasound . 1994;22:560–563
  13. Chitayat D , Toi A , Babul R , et al.   Omphalocele in Miller-Dieker syndrome: expanding the phenotype . Am J Med Genet . 1997;69:293–298
  14. Greco P, Resta M, Vimercati A, Dicuonzo F, Loverro G, Vicino M, et al. Antenatal diagnosis of isolated lissencephaly by ultrasound and magnetic resonance imaging . Ultrasound Obstet Gynecol . 1998;12:276–279
  15. Pastorino D , Prefumo F , Rossi A , et al.   Apparently isolated borderline ventriculomegaly and lissencephaly . Prenat Diagn . 2007;27:483–484
  16. Lenzini E , D'Ottavio G , Città A , Benussi DG , Petix V , Pecile V . Prenatal diagnosis of Miller-Dieker syndrome by ultra-sound and molecular cytogenetic analysis . Clin Genet . 2007;72:487–489
  17. Aslan H , Gungorduk K , Yildirim D , Aslan O , Yildirim G , Ceylan Y . Prenatal diagnosis of lissencephaly: a case report . J Clin Ultrasound . 2009;37:245–248

PII: S1028-4559(09)60332-6

doi: 10.1016/S1028-4559(09)60332-6

Taiwanese Journal of Obstetrics and Gynecology
Volume 48, Issue 4 , Pages 408-411 , December 2009

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