Author(s): Chen, CP (Chen, Chih-Ping); Wang, TH (Wang, Tzu-Hao); Lin, CC (Lin, Chyi- Chyang); Tsai, FJ (Tsai, Fuu-Jen); Hsieh, LJ (Hsieh, Lie-Jiau); Wang, W (Wang, Wayseen) Title: 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
Source: JOURNAL OF THE FORMOSAN MEDICAL ASSOCIATION, 107 (10): 822-826 OCT 2008
Language: English Document Type: Article
Author Keywords: duplex renal system; holoprosencephaly; orofacial clefts; partial monosomy 11q; partial trisomy 3p; pyelectasis
KeyWords Plus: CYCLOPIA; FETUS
Abstract: 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. [J Formos Med Assoc 2008;107(10):822-826]
Addresses: [Chen, Chih-Ping] Mackay Mem Hosp, Dept Obstet & Gynecol, Taipei, Taiwan;
[Chen, Chih-Ping; Wang, Wayseen] Mackay Mem Hosp, Dept Med Res, Taipei, Taiwan;
[Chen, Chih-Ping] Asia Univ, Dept Biotechnol, Taichung, Taiwan; [Chen, Chih-Ping; Tsai, Fuu- Jen] China Med Univ, Coll Chinese Med, Sch Chinese Med, Taichung, Taiwan; [Wang, Tzu- Hao] Chang Gung Univ, Chang Gung Mem Hosp, Dept Obstet & Gynecol, Lin Kou Med Ctr, Tao Yuan, Taiwan; [Lin, Chyi-Chyang; Tsai, Fuu-Jen] China Med Univ Hosp, Dept Med Genet, Taichung, Taiwan; [Hsieh, Lie-Jiau] Chung Shan Med Univ, Dept Life Sci, Taichung, Taiwan;
[Wang, Wayseen] Tatung Univ, Dept Bioengn, Taipei 104, Taiwan
Reprint Address: Chen, CP, Mackay Mem Hosp, Dept Obstet & Gynecol, 92 Sect 2,Chung Shan N Rd, Taipei, Taiwan.
E-mail Address: [email protected] Funding Acknowledgement:
Funding Agency Grant Number
National Science Council NSC-96-2314-B-195-008-MY3 Mackay Memorial Hospital, Taipei, Taiwan MMH-E-97004
This work was supported by research grants NSC-96-2314-B-195-008-MY3 from the National Science Council and MMH-E-97004 from Mackay Memorial Hospital, Taipei, Taiwan.
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Publisher: ELSEVIER SINGAPORE PTE LTD
Publisher Address: 3 KILLINEY ROAD 08-01, WINSLAND HOUSE 1, SINGAPORE, 239519, SINGAPORE
ISSN: 0929-6646
29-char Source Abbrev.: J FORMOS MED ASSOC ISO Source Abbrev.: J. Formos. Med. Assoc.
Source Item Page Count: 5
Subject Category: Medicine, General & Internal ISI Document Delivery No.: 364WA
