染色体thripsis的产前诊断，导致涉及5、7和11号染色体的复杂染色体重排，导致TWIST1缺失和saethree - chotzen综合征。

IF 2 4区医学 Q2 OBSTETRICS & GYNECOLOGY

Taiwanese Journal of Obstetrics & Gynecology Pub Date : 2025-01-01 DOI:10.1016/j.tjog.2024.09.023

Ivana Joksic , Mina Toljic , Nela Maksimovic , Dijana Perovic , Tatjana Damnjanovic , Aleksandar Jurisic

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引用次数: 0

摘要

目的：产前检测复杂染色体重排（complex chromosomal rearrangement， CCR）极为罕见，但由于CCR可能是多种先天性疾病的病因，因此具有重要的临床意义。我们提出了一个异常罕见的产前诊断saethree - chotzen综合征（SCS）上升的结果，涉及染色体5,7和11和TWIST1基因的缺失。病例报告：孕28周超声检查发现头短、远端肥大、面部扁平、小颌、相对大舌、后窝小。胎儿核型分析显示新生易位46，XY,t(7;11)(p15.5;q21)dn。染色体微阵列显示，在7号染色体（7p21.1p15.3，包括TWIST1、7p12.1p11.2和7q21.11）上存在3个微缺失，在5p12p11上存在1个微缺失。结论：利用先进的分子诊断技术与细胞遗传学方法相结合，可以精确地表征CCRs并检测其起源的分子机制。色裂现象可引起罕见的遗传综合征，如SCS。

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Prenatal diagnosis of chromothripsis causing complex chromosomal rearrangement involving chromosomes 5, 7 and 11 leading to TWIST1 deletion and Saethre-Chotzen syndrome

Objective

Prenatal detection of complex chromosomal rearrangements (CCR) is extremely rare, but is of great clinical importance, since CCR can be causative of different congenital disorders. We present an exceptionally rare case of prenatally diagnosed Saethre-Chotzen syndrome (SCS) rising as a consequence of chromothripsis involving chromosomes 5, 7 and 11 and deletion of TWIST1 gene.

Case report

Brachycephaly, hypertelorism, flat face, micrognathia, relative macroglossia and small posterior fossa were noted on ultrasound examination at 28th gestational week. Fetal karyotyping revealed de novo translocation 46,XY,t(7;11)(p15.5;q21)dn. Chromosomal microarray showed presence of three microdeletions on chromosome 7 (7p21.1p15.3 including TWIST1, 7p12.1p11.2 and 7q21.11), and one on chromosome 5p12p11.

Conclusion

Use of advanced molecular diagnostic techniques in combination with cytogenetic methods allows for precise characterization of CCRs and detection of molecular mechanisms of their origin. Phenomenon of chromothripsis can be causative of rare genetic syndromes such as SCS.

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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.