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

Chen, Chih-Ping; Wang, Tzu-Hao; Lin, Chyi-Chyang; Tsai, Fuu-Jen; Hsieh, Lie-Jiau; Wang, Wayseen

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

« PreviousJournal 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
- 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
- Correspondence 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
- Department of Obstetrics and Gynecology, Lin-Kou Medical Center, Chang-Gung Memorial Hospital, Chang-Gung University, Taoyuan, Taiwan
Chyi-Chyang Lin
- Department of Medical Genetics, China Medical University Hospital, Taichung, Taiwan
Fuu-Jen Tsai
- 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
- Department of Life Sciences, Chung Shan Medical University, Taichung, Taiwan
Wayseen Wang
- 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.

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