First report on chromosomal abnormalities in Eastern Morocco: Identification of a new case of a de novo partial trisomy 13q using single-nucleotide polymorphism array

IF 1.3 4区 医学 Q3 PEDIATRICS
Manal Elidrissi Errahhali , Mounia Elidrissi Errahhali , Sara Ramdani , Saida Lhousni , Noufissa Benajiba , Maria Rkain , Abdeladim Babakhouya , Aziza Elouali , Ayad Ghanam , Rim Amrani , Sahar Messaoudi , Anass Ayyad , Bouchra Oneib , Ahmed Mimouni , Hanane Saadi , Sanae Allaoui , Meryem Ouarzane , Agnès Guichet , Majida Charif , Redouane Boulouiz , Mohammed Bellaoui
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引用次数: 0

Abstract

Background

Chromosomal abnormalities are the main cause of birth defects, intellectual disability, and miscarriages. They contribute to significant human morbidity and infant mortality. Here we report for the first time the chromosomal abnormalities encountered in the population of Eastern Morocco. Furthermore, we describe a new case of a de novo partial trisomy 13q combined with a terminal deletion in an 11-day-old girl.

Methods

From November 2015 to March 2022, 195 patients from the BRO Biobank who were clinically suspected of having chromosomal abnormalities were referred to the cytogenetics laboratory of the Genetics Unit of the Faculty of Medicine and Pharmacy of Oujda for cytogenetic study. Karyotyping analysis was performed on peripheral blood samples using standard R banding techniques. To identify single-nucleotide polymorphism (SNP) and copy number variants (CNVs), Illumina SNP array was used.

Results

Among 195 studied cases, 32 (16.4 %) had abnormal karyotypes, of which 12 cases had numerical aberrations while 20 cases had structural aberrations. The most common numerical aberrations were Turner syndrome and Down syndrome followed by Edward, Patau, and Klinefelter syndromes. For structural aberrations, translocations were the most common, followed by derivative chromosomes, inversions, deletions, and an addition on chromosome 13 identified in an 11-day-old girl. To further characterize this addition, SNP array was carried out and revealed a 58.8-Mb duplication in region 13q14.3q34 associated with a 1-Mb deletion in region 13q34. Follow-up parental chromosomes analysis showed normal karyotypes for the parents, confirming that this partial trisomy 13q was de novo. Comparison of the phenotype associated with this novel duplication on chromosome 13q with those previously reported confirmed the considerable variability in the phenotype of the patients with partial trisomy 13q.

Conclusion

This study provided the first report on chromosomal abnormalities in Eastern Morocco and it enriched the phenotype spectrum of partial trisomy 13q and further confirmed the genotype–phenotype correlations. Furthermore, these findings justify the need to set up microarray comparative genomic hybridization techniques in Morocco for better genetic diagnosis.

首次报告摩洛哥东部的染色体异常:利用单核苷酸多态性阵列鉴定一例新的 13q 部分三体综合征病例。
背景:染色体异常是导致出生缺陷、智力障碍和流产的主要原因。它们对人类的发病率和婴儿死亡率有重大影响。在此,我们首次报告了在摩洛哥东部人群中发现的染色体异常。此外,我们还描述了一个新病例,该病例为一名出生 11 天的女婴,患有 13q 部分三体综合征并伴有终末缺失:方法:2015 年 11 月至 2022 年 3 月期间,BRO 生物库中临床怀疑染色体异常的 195 名患者被转诊至乌季达医学和药学系遗传学组的细胞遗传学实验室进行细胞遗传学研究。采用标准 R 带技术对外周血样本进行核型分析。为了确定单核苷酸多态性(SNP)和拷贝数变异(CNVs),使用了 Illumina SNP 阵列:在 195 例研究病例中,32 例(16.4%)核型异常,其中 12 例为数字畸变,20 例为结构畸变。最常见的数字畸变是特纳综合征和唐氏综合征,其次是爱德华综合征、帕陶综合征和克莱恩费尔特综合征。在结构畸变方面,易位是最常见的,其次是衍生染色体、倒位、缺失,以及在一个 11 天大的女孩身上发现的 13 号染色体上的附加。为了进一步确定这一附加的特征,进行了 SNP 阵列分析,结果显示 13q14.3q34 区域有一个 58.8 兆字节的重复,而 13q34 区域有一个 1 兆字节的缺失。后续的父母染色体分析表明,父母的核型正常,这证实 13q 部分三体是新生儿。将与 13q 染色体上这一新型重复相关的表型与之前报道的表型进行比较,证实 13q 部分三体症患者的表型存在很大差异:本研究首次报道了摩洛哥东部的染色体异常情况,丰富了 13q 部分三体综合征的表型谱,并进一步证实了基因型与表型之间的相关性。此外,这些发现证明有必要在摩洛哥建立微阵列比较基因组杂交技术,以更好地进行基因诊断。
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来源期刊
Archives De Pediatrie
Archives De Pediatrie 医学-小儿科
CiteScore
2.80
自引率
5.60%
发文量
106
审稿时长
24.1 weeks
期刊介绍: Archives de Pédiatrie publishes in English original Research papers, Review articles, Short communications, Practice guidelines, Editorials and Letters in all fields relevant to pediatrics. Eight issues of Archives de Pédiatrie are released annually, as well as supplementary and special editions to complete these regular issues. All manuscripts submitted to the journal are subjected to peer review by international experts, and must: Be written in excellent English, clear and easy to understand, precise and concise; Bring new, interesting, valid information - and improve clinical care or guide future research; Be solely the work of the author(s) stated; Not have been previously published elsewhere and not be under consideration by another journal; Be in accordance with the journal''s Guide for Authors'' instructions: manuscripts that fail to comply with these rules may be returned to the authors without being reviewed. Under no circumstances does the journal guarantee publication before the editorial board makes its final decision. Archives de Pédiatrie is the official publication of the French Society of Pediatrics.
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