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首页> 外文期刊>Molecular cytogenetics >Report of trisomy 2q34-qter and monosomy 4q35.2-qter in a child with mild dysmorphic syndrome and karyotype 46,XY,der(4)t(2;4)(q34;q35.2)pat
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Report of trisomy 2q34-qter and monosomy 4q35.2-qter in a child with mild dysmorphic syndrome and karyotype 46,XY,der(4)t(2;4)(q34;q35.2)pat

机译：具有轻度疑带术综合征和核型46，XY，DER（4）T（2; 4）（Q34; Q35.2）PAT

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Background:Concomitant trisomy 2q3 and monosomy 4q3 have been rarely reported. Pure trisomy 2q3 has been associated with microcephaly, hypertelorism, low-set ears, micrognathia, visceral abnormalities, and growth retardation. Monosomy 4q3 includes a wide variety of dysmorphic features such an abnormal skull shape, hypertelorism, Pierre Robin sequence, short nose with abnormal bridge, fifth finger clinodactyly, congenital heart, and genitourinary defects, in addition to intellectual disability, developmental delay, and hypotonia, but more distal deletions involving 4q34-qter may result in milder phenotypes. Here, we present a child with a mild dysmorphic syndrome, resulted of a duplication 2q34-qter and a deletion 4q35.2-qter inherited of his father.Case presentation:We report a child, who at birth presented hypotonia, dysmorphism, and bilateral cryptorchidism. At 2?years and 9?month of age he showed brachycephaly, narrow forehead, bilateral frontoparietal hypertrichosis, down slanting palpebral fissures, sparse eyebrows, sparse short eyelashes, hypertelorism, depressed nasal root, broad nasal bridge, bulbous nasal tip, prominent colummela, broad nasal ala, smooth filtrum, high arched palate, thin upper lips, and ears rotated backwards. He also showed telethelia, hypertrichosis from dorsal to the sacral region, hands with clinodactyly and hypoplasia of the terminal phalanx of the fifth finger, and broad thumbs, broad first toes, and right cryptorchidism. A chromosomal study revealed a karyotype 46,XY,der(4)t(2;4)(q34;q35.2), while an array comparative genomic hybridization showed a 31.12?Mb duplication of the chromosome 2q34-q37.3 and a 1.49?Mb deletion in the chromosome 4q35.2.Conclusions:To our knowledge, only four families with translocation t(2;4) have been reported, two of them involving t(2q;4q), but the breakpoints involved in our patient have not been previously observed. The genomic imbalance in this patient was a duplication of 318 genes of the region 2q34-q37.3 and a deletion of 7 genes of 4q35.2. We discuss difficulty to assign specific congenital abnormalities to these duplicated/deleted regions and include some cases with terminal deletions of 4q with normal or just mildly detectable phenotypic effects.? The Author(s) 2020.
机译：背景：伴随着三象的2Q3和单体4Q3很少报道。纯三兆癣2Q3已与微骨畸形，高度兴奋，低耳朵，微内膜，内脏异常和生长延迟有关。单体统计学4Q3包括各种疑风特性，如异常颅骨形状，高速兴奋，皮埃尔·罗宾序列，短鼻子异常，第五根手指临床，先天性心脏和泌尿生殖缺陷，除了智力残疾，发育延迟和肺结气外，但涉及4q34-qter的更多远端缺失可能导致较高的表型。在这里，我们呈现一个具有轻度疑似综合征的孩子，导致了重复的2Q34 - qter和删除了他的父亲的删除了4q35.2- quter .case介绍：我们报告一个孩子，在出生时呈现出鼻子，虚张声势和双边的孩子隐晶型。在2年和9个？年龄他的年龄他展示了Brachycephaly，狭窄的额头，双侧前期高血裂，下降倾斜的睑裂，稀疏的眉毛，稀疏的短睫毛，高度兴奋，伤口鼻根，广阔的鼻桥，球形鼻尖，富有植物桥，杰拉姆阔鼻ALA，光滑的滤器，高拱形腭，薄嘴唇，耳朵向后旋转。他还向骶骨区映射到骶骨区域，手中与第五根末端的末端和脑膜尖端，宽拇指，宽脚趾和右侧脊髓纤维术的髋关节和发育不全。染色体研究显示了核型46，XY，DER（4）T（2; 4）（Q34; Q35.2），而阵列对比基因组杂交显示31.12？MB染色体的复制2Q34-Q37.3和a 1.49？MB删除在染色体4Q35.2。结论：到我们的知识，据报道，只有四个具有易位T（2; 4）的家庭，其中两个涉及T（2Q; 4Q），但涉及我们患者的断点尚未观察到。该患者的基因组不平衡是该区域的318个基因的重复，并缺失7℃的7℃。我们讨论难以向这些重复/缺失的区域分配特定的先天性异常，并包括一些患者患者4Q的病例，具有正常或只是轻度可检测的表型效应。？作者2020年。

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