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Distal 3p duplication and terminal 7q deletion associated with nuchal edema and cyclopia in a fetus and a review of the literature.
Taiwan J Obstet Gynecol. 2015 Jun; 54(3):297-302.TJ

Abstract

OBJECTIVE

To present perinatal detection of distal 3p duplication and terminal 7q deletion associated with nuchal edema and cyclopia in a fetus, and to review the literature.

MATERIALS AND METHODS

A 32-year-old, G9P0, woman who had experienced eight spontaneous abortions was found to have fetal nuchal edema, alobar holoprosencephaly, and cyclopia by prenatal ultrasound at 15 weeks of gestation. The pregnancy was subsequently terminated, and a malformed fetus was delivered with cyclopia. Molecular and conventional cytogenetic analyses were made to determine the genetic pathogenesis of fetal abnormalities.

RESULTS

The father had a karyotype of 46,XY,t(3;7)(p22.1;q36.1). The mother had a karyotype of 46,XX. The fetus had a karyotype of 46,XY,der(7)t(3;7)(p22.1;q36.1)pat. The analysis of array comparative genomic hybridization analysis revealed a 43.68-Mb duplication of 3p26.3-3p22.1 encompassing CHL1 and CNTN4, and an 8.66-Mb deletion of 7q36.1-7q36.3 encompassing SHH in the fetus.

CONCLUSION

Simultaneous occurrence of 7q deletion and 3p duplication can be associated with alobar holoprosencephaly. For the couple with a parental translocation involving 7q and 3p, prenatal ultrasound should include a detailed investigation of central nervous system anomalies.

Authors+Show 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; Institute of Clinical and Community Health Nursing, National Yang-Ming University, Taipei, Taiwan; Department of Obstetrics and Gynecology, School of Medicine, National Yang-Ming University, Taipei, Taiwan. Electronic address: cpc_mmh@yahoo.com.Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan.Department of Medical Research, Mackay Memorial Hospital, Taipei, Taiwan.Department of Obstetrics and Gynecology, Kaohsiung Medical University Hospital, Kaohsiung Medical University, Kaohsiung, Taiwan.Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan.Gene Biodesign Co. Ltd, Taipei, Taiwan.Department of Medical Research, Mackay Memorial Hospital, Taipei, Taiwan.Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan.Department of Medical Research, Mackay Memorial Hospital, Taipei, Taiwan; Department of Bioengineering, Tatung University, Taipei, Taiwan.

Pub Type(s)

Case Reports
Journal Article
Research Support, Non-U.S. Gov't
Review

Language

eng

PubMed ID

26166345

Citation

Chen, Chih-Ping, et al. "Distal 3p Duplication and Terminal 7q Deletion Associated With Nuchal Edema and Cyclopia in a Fetus and a Review of the Literature." Taiwanese Journal of Obstetrics & Gynecology, vol. 54, no. 3, 2015, pp. 297-302.
Chen CP, Huang MC, Chern SR, et al. Distal 3p duplication and terminal 7q deletion associated with nuchal edema and cyclopia in a fetus and a review of the literature. Taiwan J Obstet Gynecol. 2015;54(3):297-302.
Chen, C. P., Huang, M. C., Chern, S. R., Kuo, Y. L., Chen, Y. N., Wu, P. S., Chen, L. F., Pan, C. W., & Wang, W. (2015). Distal 3p duplication and terminal 7q deletion associated with nuchal edema and cyclopia in a fetus and a review of the literature. Taiwanese Journal of Obstetrics & Gynecology, 54(3), 297-302. https://doi.org/10.1016/j.tjog.2015.04.001
Chen CP, et al. Distal 3p Duplication and Terminal 7q Deletion Associated With Nuchal Edema and Cyclopia in a Fetus and a Review of the Literature. Taiwan J Obstet Gynecol. 2015;54(3):297-302. PubMed PMID: 26166345.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Distal 3p duplication and terminal 7q deletion associated with nuchal edema and cyclopia in a fetus and a review of the literature. AU - Chen,Chih-Ping, AU - Huang,Ming-Chao, AU - Chern,Schu-Rern, AU - Kuo,Yu-Ling, AU - Chen,Yen-Ni, AU - Wu,Peih-Shan, AU - Chen,Li-Feng, AU - Pan,Chen-Wen, AU - Wang,Wayseen, PY - 2015/04/09/accepted PY - 2015/7/14/entrez PY - 2015/7/15/pubmed PY - 2016/4/14/medline KW - 3p duplication KW - 7q deletion KW - cyclopia KW - holoprosencephaly KW - nuchal edema SP - 297 EP - 302 JF - Taiwanese journal of obstetrics & gynecology JO - Taiwan J Obstet Gynecol VL - 54 IS - 3 N2 - OBJECTIVE: To present perinatal detection of distal 3p duplication and terminal 7q deletion associated with nuchal edema and cyclopia in a fetus, and to review the literature. MATERIALS AND METHODS: A 32-year-old, G9P0, woman who had experienced eight spontaneous abortions was found to have fetal nuchal edema, alobar holoprosencephaly, and cyclopia by prenatal ultrasound at 15 weeks of gestation. The pregnancy was subsequently terminated, and a malformed fetus was delivered with cyclopia. Molecular and conventional cytogenetic analyses were made to determine the genetic pathogenesis of fetal abnormalities. RESULTS: The father had a karyotype of 46,XY,t(3;7)(p22.1;q36.1). The mother had a karyotype of 46,XX. The fetus had a karyotype of 46,XY,der(7)t(3;7)(p22.1;q36.1)pat. The analysis of array comparative genomic hybridization analysis revealed a 43.68-Mb duplication of 3p26.3-3p22.1 encompassing CHL1 and CNTN4, and an 8.66-Mb deletion of 7q36.1-7q36.3 encompassing SHH in the fetus. CONCLUSION: Simultaneous occurrence of 7q deletion and 3p duplication can be associated with alobar holoprosencephaly. For the couple with a parental translocation involving 7q and 3p, prenatal ultrasound should include a detailed investigation of central nervous system anomalies. SN - 1875-6263 UR - https://www.unboundmedicine.com/medline/citation/26166345/Distal_3p_duplication_and_terminal_7q_deletion_associated_with_nuchal_edema_and_cyclopia_in_a_fetus_and_a_review_of_the_literature_ L2 - https://linkinghub.elsevier.com/retrieve/pii/S1028-4559(15)00083-2 DB - PRIME DP - Unbound Medicine ER -