Dicentric Recombinant Chromosome 18 due to Maternal Paracentric Inversion Analyzed by Array CGH.

IF 0.9 4区医学 Q4 GENETICS & HEREDITY

Molecular Syndromology Pub Date : 2023-06-01 Epub Date: 2023-02-01 DOI:10.1159/000527160

Özlem Anlaş, Akgün Ölmez, Birsen Karaman, Füsun Düzcan, Selçuk Yüksel, Funda Tümkaya, Gülseren Bağcı, Cavidan Nur Semerci Gündüz

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引用次数: 0

Abstract

Introduction: Chromosomal abnormalities are mostly found in 0.5-0.8% of live-born infants with developmental and morphological defects. Paracentric inversions are structural intrachromosomal rearrangements resulting in a risk of chromosomally unbalanced gametes in carriers.

Case presentation: Herein, we report a patient with dicentric rearrangement of chromosome 18 due to maternal paracentric inversion of chromosome 18. The patient was a girl, aged 3 years and 11 months. She was referred due to multiple congenital abnormalities, severe intellectual disability, and motor retardation. She had microcephaly, prominent metopic suture, synophrys, epicanthic folds, telecanthus, wide-set alae nasi, wide columella, bilateral cleft lip and palate, pectus carinatum, umbilical hernia, pes planus, and anteriorly displaced anus. She had bilateral external auditory canal stenosis and mild right-sided and moderate left-sided sensorineural hearing loss. Echocardiography showed secundum-type atrial septal defect and mild tricuspid failure. Brain magnetic resonance imaging showed only thinning of posterior areas of the corpus callosum. Chromosome analysis showed 46,XX,dic rec(18) by GTG and C banding. Dicentric chromosome was confirmed by fluorescence in situ hybridization analysis. Paternal karyotype was normal 46,XY but maternal chromosome analysis showed a paracentric inversion in chromosome 18 with 46,XX,inv(18)(q11.2?q21.3?) karyotype. Array CGH was performed on a peripheral blood sample from the patient and showed duplication at 18p11.32p11.21 and 18q11.1q11.2, and deletion at 18q21.33q23. The patient's final karyotype is arr 18p11.32p11.21(64,847_15,102,598)×3,18q11.1q11.2(18,542,074_22,666,470)×3,18q21.33q23(59,784,364_78,010,032)×1.

Discussion: To the best of our knowledge, this is the first report of a patient with dicentric chromosome 18 due to a parental paracentric inversion of chromosome 18. We present the genotype-phenotype correlation with literature review.

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阵列CGH分析母体双中心18号染色体旁中心反转。

染色体异常多见于0.5-0.8%的发育和形态缺陷的活产婴儿。傍中心倒位是染色体内的结构性重排，导致携带者染色体不平衡配子的风险。病例介绍:在此，我们报告一例由于母体18号染色体旁中心反转而导致18号染色体双中心重排的患者。患者为女童，年龄3岁11个月。她因多种先天性畸形，严重的智力残疾和运动迟缓而被转诊。她有小头畸形，突出的位置缝合线，关节滑脱，上眦褶皱，远端赘肉，宽鼻翼，宽小柱，双侧唇腭裂，胸凸，脐疝，扁平足，肛门前移位。她有双侧外耳道狭窄和轻度右侧和中度左侧感音神经性听力损失。超声心动图显示第二型房间隔缺损和轻度三尖瓣衰竭。脑磁共振成像显示仅胼胝体后部变薄。染色体分析显示GTG和C带分别为46、XX、dic、recc(18)。荧光原位杂交分析证实双中心染色体。父本核型为正常46,XY，但母体染色体分析显示18号染色体为顺中心倒位，核型为46,XX,inv(18)(q11.2?q21.3?)对患者外周血样本进行阵列CGH检测，发现18p11.32p11.21和18q11.1q11.2位点重复，18q21.33q23位点缺失。患者最终的核型为arr 18p11.32p11.21(64,847_15,102,598)×3,18q11.1q11.2(18,542,074_22,666,470)×3,18q21.33q23(59,784,364_78,010,032)×1。讨论:据我们所知，这是第一例因亲代18号染色体旁中心反转而导致18号染色体双中心的病例。我们对基因型与表型的相关性进行了文献综述。

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来源期刊

Molecular Syndromology Biochemistry, Genetics and Molecular Biology-Genetics

CiteScore

1.70

自引率

9.10%

发文量

期刊介绍： ''Molecular Syndromology'' publishes high-quality research articles, short reports and reviews on common and rare genetic syndromes, aiming to increase clinical understanding through molecular insights. Topics of particular interest are the molecular basis of genetic syndromes, genotype-phenotype correlation, natural history, strategies in disease management and novel therapeutic approaches based on molecular findings. Research on model systems is also welcome, especially when it is obviously relevant to human genetics. With high-quality reviews on current topics the journal aims to facilitate translation of research findings to a clinical setting while also stimulating further research on clinically relevant questions. The journal targets not only medical geneticists and basic biomedical researchers, but also clinicians dealing with genetic syndromes. With four Associate Editors from three continents and a broad international Editorial Board the journal welcomes submissions covering the latest research from around the world.