Clinical and Molecular Cytogenetic Characterization of 2 Sibling Cases with 17q25 Duplication due to Unbalanced Translocation.

IF 0.9 4区 医学 Q4 GENETICS & HEREDITY Molecular Syndromology Pub Date : 2024-12-01 Epub Date: 2024-05-30 DOI:10.1159/000538979
Na Chen, Wenshan Zeng, Yuqin Luo, Minyue Dong
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引用次数: 0

Abstract

Introduction: Partial 17q duplication is a rare chromosome abnormality. Features include severe psychomotor retardation, intellectual disability, facial dysmorphism, proximal limb shortness, and hyperlaxity of limb joints.

Case presentation: The proband is a 7-year and 4-month-old boy with developmental delay, facial abnormality, joint laxity and scoliosis, ventriculomegaly, hydrocephalus, hypophosphatemia, and squint, while his older brother is a fetus who was aborted at 33rd week of gestation because of multiple malformations including ventriculomegaly and moderate hydrocephalus. Both siblings have features such as ventriculomegaly and hydrocephalus.

Conclusion: Here, we report 2 sibling cases with 17q25 duplication from a maternal translocation t(14;17). Our findings expanded the clinical spectra and described the fetal phenotype of 17q25 microduplication.

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来源期刊
Molecular Syndromology
Molecular Syndromology Biochemistry, Genetics and Molecular Biology-Genetics
CiteScore
1.70
自引率
9.10%
发文量
67
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.
期刊最新文献
Clinical and Molecular Cytogenetic Characterization of 2 Sibling Cases with 17q25 Duplication due to Unbalanced Translocation. Erratum. Microdeletion 3q13.2q21.2 in a Patient Previously Diagnosed with MOMO Syndrome. Mitochondrial DNA Depletion Syndromes Gene Panel versus Clinical Exome Sequencing in Children with Suspected Mitochondrial Hepatopathies. Screening for TSEN54 Variants in Egyptian Patients with Pontocerebellar Malformations.
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