一名环状染色体 14 号综合征患者的染色体不稳定:病例报告。

IF 1.3 4区 生物学 Q4 GENETICS & HEREDITY
Juan Pablo Meza-Espinoza, Juan Ramón González-García, Nayeli Nieto-Marín, Liliana Itzel Patrón-Baro, Rosa María González-Arreola, Eliakym Arámbula-Meraz, Julio Benítez-Pascual, Alberto Kousuke De la Herrán-Arita, Claudia Desireé Norzagaray-Valenzuela, Marco Antonio Valdez-Flores, Tomás Adrián Carrillo-Cázares, Verónica Judith Picos-Cárdenas
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引用次数: 0

摘要

背景:环状染色体 14 号综合征是一种罕见的疾病,主要表现为早发性癫痫、小头畸形、独特的颅面特征、肌张力低下、智力障碍以及发育和语言学习迟缓:病例介绍:一名 21 岁的女性自 1 岁起就有癫痫发作史。病例介绍:一名 21 岁的女性自 1 岁开始癫痫发作,5 岁时出现明显的颅面部特征,包括前额突出且狭窄、眉毛稀疏且短、睑下垂、水平睑裂、鼻梁宽、鼻尖突出、咽扁平、后凸、中面部发育不全、水平唇裂、上唇薄、牙齿拥挤、腭龈、后颌畸形和颈宽。其他身体畸形还包括脊柱后凸、腰椎侧弯、鸡胸、肘外翻、趾骨和趾骨下垂、双侧拇指外翻、左脚跟腱缩短和小阴唇发育不良。染色体分析发现了一条环状 14 号染色体,其断点位于 p11 和 q32.33。aCGH 研究显示,14qter 染色体上存在约 1.7 Mb 的缺失,包括 23 个基因。基因组的不稳定性表现为微核和非整倍体的存在,涉及环状染色体和其他染色体:结论:我们患者的临床特征与在其他环状染色体 14 号综合征患者身上观察到的特征非常相似。最重要的一点是,我们能够证实 r(14)染色体的不稳定性,主要涉及无相滞后和以微核的形式从细胞核中排除。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Chromosomal instability in a patient with ring chromosome 14 syndrome: a case report.

Background: Ring chromosome 14 syndrome is a rare disorder primarily marked by early-onset epilepsy, microcephaly, distinctive craniofacial features, hypotonia, intellectual disability, and delay in both development and language acquisition.

Case presentation: A 21-year-old woman with a history of epileptic seizures since the age of 1.5 years presented with distinctive craniofacial features, including a prominent and narrow forehead, sparse and short eyebrows, palpebral ptosis, horizontal palpebral fissures, a broad nasal bridge, a prominent nasal tip, a flat philtrum, hypertelorism, midfacial hypoplasia, horizontal labial fissures, a thin upper lip, crowded teeth, an ogival palate, retrognathia, and a wide neck. Additional physical abnormalities included kyphosis, lumbar scoliosis, pectus carinatum, cubitus valgus, thenar and hypothenar hypoplasia, bilateral hallux valgus, shortening of the Achilles tendon on the left foot, and hypoplasia of the labia minora. Chromosomal analysis identified a ring 14 chromosome with breakpoints in p11 and q32.33. An aCGH study revealed a ~ 1.7 Mb deletion on chromosome 14qter, encompassing 23 genes. Genomic instability was evidenced by the presence of micronuclei and aneuploidies involving the ring and other chromosomes.

Conclusion: The clinical features of our patient closely resembled those observed in other individuals with ring chromosome 14 syndrome. The most important point was that we were able to verify an instability of the r(14) chromosome, mainly involving anaphasic lags and its exclusion from the nucleus in the form of a micronucleus.

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来源期刊
Molecular Cytogenetics
Molecular Cytogenetics GENETICS & HEREDITY-
CiteScore
2.60
自引率
7.70%
发文量
49
审稿时长
>12 weeks
期刊介绍: Molecular Cytogenetics encompasses all aspects of chromosome biology and the application of molecular cytogenetic techniques in all areas of biology and medicine, including structural and functional organization of the chromosome and nucleus, genome variation, expression and evolution, chromosome abnormalities and genomic variations in medical genetics and tumor genetics. Molecular Cytogenetics primarily defines a large set of the techniques that operate either with the entire genome or with specific targeted DNA sequences. Topical areas include, but are not limited to: -Structural and functional organization of chromosome and nucleus- Genome variation, expression and evolution- Animal and plant molecular cytogenetics and genomics- Chromosome abnormalities and genomic variations in clinical genetics- Applications in preimplantation, pre- and post-natal diagnosis- Applications in the central nervous system, cancer and haematology research- Previously unreported applications of molecular cytogenetic techniques- Development of new techniques or significant enhancements to established techniques. This journal is a source for numerous scientists all over the world, who wish to improve or introduce molecular cytogenetic techniques into their practice.
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