背景:Kagami-Ogata综合征(KOS)和Temple综合征(TS)是两种印迹疾病,其特征是染色体14q32区域中母体或父系基因的缺失或表达减少,分别。我们介绍了一种罕见的产前诊断的复发性KOS病例,该病例是从受TS影响的母亲那里继承的。
方法:该妇女的两次受影响的怀孕表现出了产前过度生长的反复表现,羊水过多,和脐膨出,以及出生后带有衣架肋骨的小钟形胸部。使用单核苷酸多态性阵列进行的产前遗传检测在从母亲遗传的14q32染色体印迹区域中检测到268.2kb的缺失,导致KOS的诊断。此外,该妇女在父系染色体14q32印迹区域携带从头缺失,身材矮小,手脚小,指示TS的诊断。
结论:鉴于KOS作为一种印记障碍的罕见性,这种罕见的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CMA工作流程中压印区域在实验室分析中的重要性。
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.
METHODS: 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.