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 ,Revised 15 June 2007 ,Accepted 7 August 2007.

References 

  1. Smeets E , Vandenbossche L , Fryns JP . Partial distal trisomy 3p. A partial autosomal trisomy without major dysmorphic features . Genet Counsel . 2001;12:85–89
  2. Chen CP , Chern SR , Tzen CY , et al.   Prenatal diagnosis of de novo distal 11q deletion associated with sonographic findings of unilateral duplex renal system, pyelectasis and orofacial clefts . Prenat Diagn . 2001;21:317–320
  3. Chen CP , Tzen CY , Chang TY , et al.   Prenatal diagnosis of partial trisomy 3p and partial monosomy 11q in a fetus with a Dandy-Walker variant and trigonocephaly . Prenat Diagn . 2002;22:1112–1113
  4. Siebert JR , Cohen MM , Sulik KK , et al.   In: Holoprosencephaly: An Overview and Atlas of Cases . New York: Wiley-Liss; 1990;p. 362
  5. Ming JE , Muenke M . Multiple hits during early embryonic development: digenic diseases and holoprosencephaly . Am J Hum Genet . 2002;71:1017–1032
  6. Buchinger G , Wettstein A , Metze H . Familial chromosome translocation t(3;18)(p21;p11) . J Med Genet . 1981;18:119–123
  7. Martin NJ , Steinberg BG . The dup(3p)(p25-pter) syndrome: a case with holoprosencephaly . Am J Med Genet . 1983;14:767–772
  8. Van Regemorter N , Vamos E , Gillerot Y , et al.   Partial trisomy 3p in two siblings: clinical and pathological findings . Eur J Pediatr . 1983;141:53–56
  9. Gimelli G , Cuoco C , Liturania M , et al.   Dup(3)(p2-pter) in two families, including one infant with cyclopia . Am J Med Genet . 1985;20:341–348
  10. Gillerot Y , Hustin J , Koulischer L , et al.   Prenatal diagnosis of a dup(3p) with holoprosencephaly . Am J Med Genet . 1987;26:225–227
  11. Chen CP , Liu FF , Jan SW , et al.   Prenatal diagnosis of terminal deletion 7q and partial trisomy 3p in fetuses with holoprosencephaly . Clin Genet . 1996;50:321–326
  12. Chen CP , Devriendt K , Lee CC , et al.   Prenatal diagnosis of partial trisomy 3p (3p23→pter) and monosomy 7q (7q36→qter) in a fetus with microcephaly, alobar holoprosencephaly and cyclopia . Prenat Diagn . 1999;19:986–989
  13. Kent A , Cox D , Downey P , et al.   A study of mild fetal pyelectasia—outcome and proposed strategy of management . Prenat Diagn . 2000;20:206–209
  14. Livera LN , Brookfield DSK , Egginton JA , et al.   Antenatal ultrasonography to detect renal abnormalities: a prospective screening programme . Br Med J . 1989;298:1421–1423
  15. Schinzel A . In: Catalogue of Unbalanced Chromosome Aberrations in Man . Berlin: de Gruyter; 1983;p. 432–433 857.
  16. Vergani P , Ceruti P , Locatelli A , et al.   Accuracy of prenatal ultrasonographic diagnosis of duplex renal system . J Ultrasound Med . 1999;18:463–467

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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