An interstitial deletion at 8q23.1-q24.12 associated with Langer-Giedion syndrome/ Trichorhinophalangeal syndrome (TRPS) type II and Cornelia de Lange syndrome 4.
An interstitial deletion at 8q23.1-q24.12 associated with Langer-Giedion syndrome/ Trichorhinophalangeal syndrome (TRPS) type II and Cornelia de Lange syndrome 4.
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DOI：
10.1186/s13039-015-0169-9
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发表时间：
2015
影响因子：
1.3
通讯作者：
Fryssira H
中科院分区：
文献类型：
--
作者：
Selenti N;Tzetis M;Braoudaki M;Gianikou K;Kitsiou-Tzeli S;Fryssira H
毛鼻指关节综合征（TRPS）有三种不同的亚型：TRPS I型、TRPS II型和TRPS III型。所有三种亚型的共同特征包括稀疏，缓慢生长的头皮毛发，侧面稀疏的眉毛，球状鼻尖（梨形）和突出的耳朵。Langer-Giedion综合征（LGS）或TRPS II型是8q24.1上的连续基因综合征，涉及TRPS 1和EXT 1基因的功能拷贝丢失。我们报告一位男性病患，因肌张力减退及面部畸形而转介至医学遗传科。细胞遗传学和阵列-比较基因组杂交（aCGH）分析显示，该患者是12.5 Mb的8q23.1-q24.12间质缺失的携带者。双亲核型显示父亲携带一个明显平衡的插入：46，染色体，der（10）ins（10;8）（q22; q23 q24）。这是第一次报告的一个明显的平衡插入，包括染色体8和10有助于LGS/ TRPS II型的病因。及时诊断父母染色体平衡重排可以降低随后流产以及后代异常的风险。
There are three distinct subtypes of Trichorhinophalangeal syndrome (TRPS); TRPS type I, TRPS type II and TRPS type III. Features common to all three subtypes include sparse, slowly growing scalp hair, laterally sparse eyebrows, a bulbous tip of the nose (pear-shaped), and protruding ears. Langer–Giedion syndrome (LGS) or TRPS type II is a contiguous gene syndrome on 8q24.1, involving loss of functional copies of the TRPS1 and EXT1 genes. We report a male patient that was referred to the Department of Medical Genetics due to hypotonia and dysmorphic facial features. Cytogenetic and array- Comparative Genomic Hybridization (aCGH) analysis revealed that the patient was a carrier of an interstitial deletion at 8q23.1-q24.12 of 12,5 Mb. Parental karyotype indicated that the father carried an apparently balanced insertion: 46, ΧΥ, der(10)ins(10;8)(q22;q23q24). This is the first report of an apparently balanced insertion including chromosomes 8 and 10 contributing to the etiology of LGS/ TRPS type II. Τimely diagnosis of parental balanced chromosomal rearrangements can reduce the risk of subsequent miscarriages as well as abnormal offspring.