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首页> 外文期刊>Balkan journal of medical genetics: BJMG >A very rare partial trisomy syndrome: De novo duplication of 16q12.1q23.3 in a Turkish girl with developmental delay and facial dysmorphic features
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A very rare partial trisomy syndrome: De novo duplication of 16q12.1q23.3 in a Turkish girl with developmental delay and facial dysmorphic features

机译：一种非常罕见的部分三重综合征：De Novo重复于16 Q12.1Q23.3在土耳其女孩中，具有发育延迟和面部疑难态特征

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摘要

Trisomy 16 is the most common type of autosomal trisomy associated with spontaneous abortion and is incompatible with life. Upon examining previously reported cases of partial chromosome 16q duplication, it was noted that the majority of cases had complex chromosomal abnormalities due to parental balanced chromosomal translocation carriage. The clinical presentation of very rare pure partial trisomy 16q cases was associated with congenital anomalies, facial dysmorphic findings and intellectual disability. In this study, we evaluated the physical characteristics and genetic data of an 8-month-old girl with developmental delay and facial dysmorphic features. Dysmorphic features including prominent metopic suture, synophrys, asymmetric head shape, triangular and asymmetric face, telecanthus, epicanthal folds, down-slanting palpebral fissures, microphthalmia of the left eye, anteverted nares, smooth and tented philtrum, microretrognathia, low-set posteriorly rotated ears, auricular pits, high-arched palate, thin upper lip and hypotonia were recorded. Her karyotype was 46,XX,add(16)(q24). To identify the extension of the duplicated section, array comparative genomic hybridization (aCGH) analysis was performed, which showed a de novo 29.8 Mb duplication [arr[hgl9] 16q12.1q23.3(52459169-82285105) x 3], interpreted to be pathogenic. We present this case report to clarify the clinical findings of a rare chromosomal anomaly, discuss the genes that may be related to the phenotype and advance the literature in terms of knowledge regarding genotypephenotype correlation.
机译：三胞16是与自发流产相关的最常见的常规类型类型，与生命不相容。在检查先前报道的部分染色体16季度重复情况后，注意到大多数病例由于父母平衡染色体易移动托架而具有复杂的染色体异常。临床介绍非常罕见的纯部分三兆癣16杆病例与先天性异常，面部疑虑结果和智力残疾有关。在这项研究中，我们评估了一个8个月大女孩的身体特征和遗传数据，具有发育延迟和面部疑似特征。疑难垂特性，包括突出的分型缝合，互联网，非对称头部，三角形和不对称的面部，杂散，涩耳折叠，左侧倾斜的睑裂，左眼微咽部，可爱的鼻孔，光滑，阴茎，微型脱离，低旋转，低套路记录耳朵，耳廓坑，高拱形腭，薄的上唇和低呼吸腹。她的核型为46，xx，添加（16）（Q24）。为了识别重复部分的延伸，进行阵列对比基因组杂交（ACGH）分析，显示DE NOVO 29.8 MB复制[ARR [HGL9] 16Q12.1Q23.3（52459169-82285105）x 3]，解释为致病性的。我们提出了本案例报告，以澄清稀有染色体异常的临床发现，讨论可能与表型相关的基因，并在关于基因型类型相关性的知识方面提前文献。

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