Early detection of Emanuel syndrome: a case report-Reference-Cited by-同舟云学术

Early detection of Emanuel syndrome: a case report

Published:2020-12-10 Issue:1 Volume:10 Page:
ISSN:2192-8932
Container-title:Case Reports in Perinatal Medicine
language:en
Short-container-title:

Author:

Edoardo Taddei¹²,Elena Sartori²,Luigi Raio Bulgheroni³,Andrea Papadia¹

Affiliation:

1. Obstetrics and Gynecology Division , Civil Hospital of Lugano , Lugano , Switzerland

2. Obstetrics and Gynecology Division , Medical Center Lugano , Lugano , Switzerland

3. Universitätsspital Bern, Frauenklinik , Bern , Switzerland

Abstract

Abstract Objectives Emanuel syndrome is a rare inherited syndrome, a correct in utero diagnosis allows effective management for ongoing and future pregnancies. Case presentation Here, we report a case of a complete non-mosaic trisomy 22, with several prenatal sonographic findings, that was diagnosed in utero at 15 weeks’ gestation and then it was confirmed with chromosomal analysis and postmortem examination. Conclusions Every anatomical difference should always be further investigated in order to achieve the correct diagnosis.

Publisher

Walter de Gruyter GmbH

Subject

Obstetrics and Gynecology,Embryology,Pediatrics, Perinatology and Child Health

Link

https://www.degruyter.com/document/doi/10.1515/crpm-2020-0049/pdf

Reference10 articles.

1. Guven, MA, Ceylaner, G, Ceylaner, S, Coskun, A. Prenatal diagnosis of a case with EMANUEL syndrome(supernumemary der (22) syndrome). Ultrasound Obstet Gynecol 2006;28:512–61. https://doi.org/10.1002/uog.3429.

2. İkbal Atli, E, Gürkan, H, Vatansever, Ü, Ulusal, S, Tozkir, H. A case with Emanuel syndrome: extra derivative 22 chromosome inherited from the mother. Balkan J Med Genet 2015;18:77–82. https://doi.org/10.1515/bjmg-2015-0089.

3. Luo, J, Yang, H, Tan, Z, Tu, M, Luo, H, Yang, Y, et al.. A clinical and molecular analysis of a patient with Emanuel syndrome. Mol Med Rep 2017;15:1348–52. https://doi.org/10.3892/mmr.2017.6107.

4. Choudhary, MG, Babaji, P, Sharma, N, Dhamankar, D, Naregal, G, Reddy, VS. Derivative 11;22(Emanuel) syndrome: a case report and a review. Case Rep Pediatr 2013;2013:4. https://doi.org/10.1155/2013/237935.

5. Ma, L, Ouyang, Y, Qi, Q, Hao, N, Zhao, D, Jiang, Y, et al.. Trisomy 22 with long spina bifida occulta a case report. Medicine (Baltim) 2018;97:e12306. https://doi.org/10.1097/md.0000000000012306.