Complex congenital cardiac defect associated with the combination of 5p deletion and 4q duplication in a newborn: A case report.

IF 1.7 4区生物学 Q4 CELL BIOLOGY Cytogenetic and Genome Research Pub Date : 2025-01-21 DOI:10.1159/000543591

Ülkü Nur Kırman, Ferid Aliyev, Merve Soğukpınar, Pelin Özlem Şimşek Kiper, Hayrettin Hakan Aykan, Hasan Tolga Çelik

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Abstract

Background: Congenital cardiac defects are defined in cases with the deletion of the short arm of chromosome 5 and the duplication of the long arm of chromosome 4. Septal defects and patent ductus arteriosus are among the most common defects reported in the literature.

Case: We reported on a case with a complex congenital cardiac defect, dysmorphic facial features, cat-like cry, hypotonia, hyporeflexia, weak swallowing and sucking, limb anomalies, and bilateral undescended testicles. A chromosomal microarray revealed a duplication of chromosome 4q26q35.2 and a deletion of chromosome 5p15.33p14.3, originating from the unbalanced maternal translocation 46, XX t(4;5) (q27;pter). Our patient showed clinical characteristics compatible with both deletion of 5p and duplication of 4q.

Discussion: We reported a case with a rare chromosomal rearrangement. Similarities and differences between the cases in the literature are discussed.

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新生儿5p缺失和4q重复合并相关的复杂先天性心脏缺陷1例报告

背景：先天性心脏缺陷是指5号染色体短臂缺失和4号染色体长臂重复。鼻中隔缺损和动脉导管未闭是文献中最常见的缺损。病例：我们报告了一例复杂的先天性心脏缺陷，面部畸形，猫叫声，张力低下，反射性低下，吞咽和吸吮虚弱，肢体异常，双侧睾丸未降的病例。染色体微阵列显示染色体4q26q35.2的重复和染色体5p15.33p14.3的缺失，起源于不平衡的母体易位46，XX t(4;5) （q27;pter）。我们的患者表现出与5p缺失和4q重复相一致的临床特征。讨论：我们报告了一例罕见的染色体重排。讨论了文献中案例的异同。

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来源期刊

Cytogenetic and Genome Research 生物-细胞生物学

CiteScore

3.10

自引率

5.90%

发文量

审稿时长

1 months

期刊介绍： During the last decades, ''Cytogenetic and Genome Research'' has been the leading forum for original reports and reviews in human and animal cytogenetics, including molecular, clinical and comparative cytogenetics. In recent years, most of its papers have centered on genome research, including gene cloning and sequencing, gene mapping, gene regulation and expression, cancer genetics, comparative genetics, gene linkage and related areas. The journal also publishes key papers on chromosome aberrations in somatic, meiotic and malignant cells. Its scope has expanded to include studies on invertebrate and plant cytogenetics and genomics. Also featured are the vast majority of the reports of the International Workshops on Human Chromosome Mapping, the reports of international human and animal chromosome nomenclature committees, and proceedings of the American and European cytogenetic conferences and other events. In addition to regular issues, the journal has been publishing since 2002 a series of topical issues on a broad variety of themes from cytogenetic and genome research.