Emanuel Syndrome

Volume: 49 Number: 3 September 1, 2010
  • Kazandı M
  • Turan V
  • Zeybek B
  • Rgon A
EN TR

Emanuel Syndrome

Abstract

A 35 year old pregnant woman who had previous had a child by cesarean section and a previous abortion, was referred to our clinic because of an increased risk in a second trimester screening at 20 weeks. When we investigated with detailed ultrasonograpy, increased nuchal fold thickness, diaphragma hernia, complete endocardial cushion defect and truncus arteriosus were found. Amniosentesis was performed and the pregnancy was terminated medically with usage of vaginal and oral misoprostol. After chromosomal analysis, 47,.., +der(22) t(11,22) (q25;q13) was assigned. Although paternal chromosomes analysis was normal; maternal chromosomes corresponded with 46,XX t(11,22) (q25;q13), which is a carrier for this syndrome.

Keywords

Details

Primary Language

Turkish

Subjects

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Journal Section

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Authors

Kazandı M

Turan V

Zeybek B

Rgon A

Publication Date

September 1, 2010

Submission Date

September 1, 2010

Acceptance Date

-

Published in Issue

Year 2010 Volume: 49 Number: 3

Vancouver
1.Kazandı M, Turan V, Zeybek B, Rgon A. Emanuel Sendromu. EJM [Internet]. 2010 Sep. 1;49(3):209-11. Available from: https://izlik.org/JA55SN58UN

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