Prenatal diagnosis and counseling of Emanuel syndrome: Two case reports

IF 2 4区医学 Q2 OBSTETRICS & GYNECOLOGY

Taiwanese Journal of Obstetrics & Gynecology Pub Date : 2025-05-01 DOI:10.1016/j.tjog.2024.10.022

Chi-Yuan Chiang , Zih-Ning Liu , Shu-O Chiu , Yu-Ting Lin , Hsiu-Huei Peng , Shuenn-Dyh Chang

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引用次数: 0

Abstract

Objective

Emanuel syndrome is a rare inherited chromosomal disorder characterized by the presence of a derivative chromosome 22 resulting from a translocation between chromosomes 11 and 22. Since the number of reported cases in Asian is still small, we mean to present 2 more cases diagnosed prenatally and review similar case reports to better understand the syndrome when abnormal findings were found prenatally.

Case report

Two cases of Emanual syndrome were found where one draws attention due to abnormal serum marker and thickened nuchal translucency, and the other was found when prenatal ultrasonography detected multiple anomalies. Genetic amniocentesis revealed 47 chromosomes gaining an additional marker chromosome arising from malsegregation in a balanced translocation heterozygote with 46, XX, t(11;22) (q23.3;q11.2).

Conclusion

While different anomalies were found, both of our cases along with others presented 3:1 segregation with tertiary trisomy resulting in Emanual syndrome. Chromosome of the quadrivalent is small in content (“lop-sided” quadrivalent) at meiosis I, which tends to separate in a 3:1 segregation fashion.

查看原文本刊更多论文

伊曼纽尔综合征的产前诊断与咨询：2例报告

目的：伊曼纽尔综合征是一种罕见的遗传性染色体疾病，其特征是由于11号染色体和22号染色体之间的易位而导致22号染色体的衍生。由于亚洲报告的病例数量仍然很少，我们打算再提出2例产前诊断的病例，并回顾类似的病例报告，以便更好地了解产前发现异常结果时的综合征。病例报告：2例伊曼纽尔综合征，1例因血清标志物异常、颈部透明度增厚引起注意，另1例因产前超声检查发现多发异常而发现。遗传羊膜穿刺术显示，在46，XX, t(11;22) （q23.3;q11.2）的平衡易位杂合子中，47条染色体因分离不良而获得额外的标记染色体。结论虽然发现的异常情况不同，但我们的病例与其他病例一样，都表现为三级三体的3:1分离，导致Emanual综合征。四价染色体在减数分裂I时含量小（“不平衡”四价），倾向于以3:1的分离方式分离。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Taiwanese Journal of Obstetrics & Gynecology OBSTETRICS & GYNECOLOGY-

CiteScore

3.60

自引率

23.80%

发文量

207

审稿时长

4-8 weeks

期刊介绍： Taiwanese Journal of Obstetrics and Gynecology is a peer-reviewed journal and open access publishing editorials, reviews, original articles, short communications, case reports, research letters, correspondence and letters to the editor in the field of obstetrics and gynecology. The aims of the journal are to: 1.Publish cutting-edge, innovative and topical research that addresses screening, diagnosis, management and care in women''s health 2.Deliver evidence-based information 3.Promote the sharing of clinical experience 4.Address women-related health promotion The journal provides comprehensive coverage of topics in obstetrics & gynecology and women''s health including maternal-fetal medicine, reproductive endocrinology/infertility, and gynecologic oncology. Taiwan Association of Obstetrics and Gynecology.