产前诊断母亲患有坦普尔综合征的复发性绪方加贺美综合征:病例报告和文献综述。

IF 2.1 4区 医学 Q3 GENETICS & HEREDITY
Xueting Yang, Mengmeng Li, Qingwei Qi, Xiya Zhou, Na Hao, Yan Lü, Yulin Jiang
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引用次数: 0

摘要

背景:绪方香美综合征(KOS)和坦普尔综合征(TS)是两种分别以染色体 14q32 区母系或父系基因缺失或表达减少为特征的印记疾病。我们介绍了一例罕见的产前诊断病例,该病例的母亲是一名受 TS 影响的复发性 KOS 遗传病人:该妇女的两次妊娠均表现为反复出现的产前发育过快、多胎畸形和脐膨出,以及产后小铃形胸廓和衣架肋骨。利用单核苷酸多态性阵列进行的产前基因检测发现,母亲遗传的 14q32 染色体印记区存在 268.2 kb 的缺失,因此诊断为 KOS。此外,该妇女的父方染色体 14q32 印记区存在一个新缺失,并表现为身材矮小、手脚细小,这表明她被诊断为 TS:结论:鉴于 KOS 作为印记障碍的罕见性,这种罕见印记障碍的准确产前诊断取决于两个因素:(1)提高临床医生对临床表型和相关遗传机制的认识;(2)强调印记区在实验室分析的 CMA 工作流程中的重要性。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Prenatal diagnosis of recurrent Kagami-Ogata syndrome inherited from a mother affected by Temple syndrome: a case report and literature review.

Background: Kagami-Ogata syndrome (KOS) and Temple syndrome (TS) are two imprinting disorders characterized by the absence or reduced expression of maternal or paternal genes in the chromosome 14q32 region, respectively. We present a rare prenatally diagnosed case of recurrent KOS inherited from a mother affected by TS.

Case presentation: The woman's two affected pregnancies exhibited recurrent manifestations of prenatal overgrowth, polyhydramnios, and omphalocele, as well as a small bell-shaped thorax with coat-hanger ribs postnatally. Prenatal genetic testing using a single-nucleotide polymorphism array detected a 268.2-kb deletion in the chromosome 14q32 imprinted region inherited from the mother, leading to the diagnosis of KOS. Additionally, the woman carried a de novo deletion in the paternal chromosome 14q32 imprinted region and presented with short stature and small hands and feet, indicating a diagnosis of TS.

Conclusions: Given the rarity of KOS as an imprinting disorder, accurate prenatal diagnosis of this rare imprinting disorder depends on two factors: (1) increasing clinician recognition of the clinical phenotype and related genetic mechanism, and (2) emphasizing the importance of imprinted regions in the CMA workflow for laboratory analysis.

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来源期刊
BMC Medical Genomics
BMC Medical Genomics 医学-遗传学
CiteScore
3.90
自引率
0.00%
发文量
243
审稿时长
3.5 months
期刊介绍: BMC Medical Genomics is an open access journal publishing original peer-reviewed research articles in all aspects of functional genomics, genome structure, genome-scale population genetics, epigenomics, proteomics, systems analysis, and pharmacogenomics in relation to human health and disease.
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