Journal of the Formosan Medical Association
Volume 107, Issue 10 , Pages 822-826, October 2008

Prenatal Diagnosis of Partial Trisomy 3p (3p21→pter) and Partial Monosomy 11q (11q23→qter) Associated with Abnormal Sonographic Findings of Holoprosencephaly, Orofacial Clefts, Pyelectasis and a Unilateral Duplex Renal System

  • Chih-Ping Chen

      Affiliations

    • Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan
    • Department of Medical Research, Mackay Memorial Hospital, Taipei, Taiwan
    • Department of Biotechnology, Asia University, Taichung, Taiwan
    • School of Chinese Medicine, College of Chinese Medicine, China Medical University, Taichung, 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
    • ,
  • Tzu-Hao Wang

      Affiliations

    • Department of Obstetrics and Gynecology, Lin-Kou Medical Center, Chang-Gung Memorial Hospital, Chang-Gung University, Taoyuan, Taiwan
    • ,
  • Chyi-Chyang Lin

      Affiliations

    • Department of Medical Genetics, China Medical University Hospital, Taichung, Taiwan
    • ,
  • Fuu-Jen Tsai

      Affiliations

    • School of Chinese Medicine, College of Chinese Medicine, China Medical University, Taichung, Taiwan
    • Department of Medical Genetics, China Medical University Hospital, Taichung, Taiwan
    • ,
  • Lie-Jiau Hsieh

      Affiliations

    • Department of Life Sciences, Chung Shan Medical University, Taichung, Taiwan
    • ,
  • Wayseen Wang

      Affiliations

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

Received 11 May 2007; received in revised form 15 June 2007; accepted 7 August 2007.

Article Outline

Patients with partial trisomy 3p seldom present major dysmorphic features, and holoprosencephaly occurs in only 10% of the cases with partial trisomy 3p. It has been suggested that multiple genetic hits or environmental exposures are required for the clinical expression of holoprosencephaly. At 16 weeks of gestation, prenatal sonography identified a fetus with holoprosencephaly, orofacial clefts, pyelectasis, and a unilateral duplex renal system. Amniocentesis revealed the karyotype of 46,XX,der(11)t(3;11)(p21;q23)pat with partial trisomy 3p (3p21→pter) and partial monosomy 11q (11q23→qter). The pregnancy was subsequently terminated. Postnatally, the proband showed hypotelorism, a depressed nasal bridge, orofacial clefts and holoprosencephaly-premaxillary agenesis. The present case provides evidence that partial trisomy 3p/monosomy 11q can be a genetic cause of holoprosencephaly and del(11)(q23→qter) is associated with a duplex renal system.

Key Words:  duplex renal system , holoprosencephaly , orofacial clefts , partial monosomy 11q , partial trisomy 3p , pyelectasis

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PII: S0929-6646(08)60197-7

doi:10.1016/S0929-6646(08)60197-7

Journal of the Formosan Medical Association
Volume 107, Issue 10 , Pages 822-826, October 2008

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