Novel Unbalanced Translocation t(3;13)(q29;q34) in an Infant With Hydrocephalus.

IF 1.6 4区医学 Q4 DEVELOPMENTAL BIOLOGY

Birth Defects Research Pub Date : 2025-08-01 DOI:10.1002/bdr2.2517

Teresa E Fowler, Anthony R Gregg, Ryan F Bloomquist

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引用次数: 0

Abstract

Background: Copy number variations in chromosomal segments 3q29 and 13q34 are described in the literature, with varying reported phenotypic findings.

Case: We report the case of a male proband found to have prenatal hydrocephalus and intrauterine growth restriction at 32 weeks gestation. Genetic testing revealed a gain of a 4.8 megabase (Mb) region of 3q29 and a loss of a 5.4 Mb region of 13q33.3q34, yielding partial trisomy 3q29 and monosomy 13q34. FISH studies suggest that this unbalanced translocation resulted from a paternal balanced translocation. Findings at birth included respiratory distress requiring intubation, small birth weight, hypotonia, coagulopathy, pelvocaliectasis, and macrocephaly, with MRI demonstrating severe cortical thinning and white matter volume loss.

Conclusions: Though unbalanced translocations are highly individualized with varied phenotypes even among close relatives, this discussion of a proband and family members with translocation of chromosomes 3 and 13 contributes to published knowledge regarding these variants. We demonstrate the utility of online databases DECIPHER, OMIM, and Unique, as well as a translocation risk calculator, for understanding genetic anomalies and prognostic data for families affected by similar genetic variations.

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新生儿脑积水的新型不平衡易位t(3;13)（q29;q34）。

背景：文献中描述了染色体3q29和13q34片段的拷贝数变异，并报告了不同的表型发现。病例：我们报告的情况下，男性先证发现有产前脑积水和宫内生长限制在妊娠32周。基因检测显示，3q29增加了4.8 Mb区域，13q33.3q34减少了5.4 Mb区域，形成3q29部分三体和13q34单体。FISH研究表明，这种不平衡易位是由父系平衡易位引起的。出生时的表现包括需要插管的呼吸窘迫、出生体重过轻、张力过低、凝血功能障碍、盆腔扩张和大头畸形，MRI显示严重的皮质变薄和白质体积减少。结论：尽管不平衡易位是高度个体化的，即使在近亲中也有不同的表型，但对先证者和3号染色体和13号染色体易位的家庭成员的讨论有助于发表关于这些变异的知识。我们展示了在线数据库DECIPHER、OMIM和Unique的效用，以及易位风险计算器，用于理解遗传异常和受类似遗传变异影响的家庭的预后数据。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Birth Defects Research Medicine-Embryology

CiteScore

3.60

自引率

9.50%

发文量

153

期刊介绍： The journal Birth Defects Research publishes original research and reviews in areas related to the etiology of adverse developmental and reproductive outcome. In particular the journal is devoted to the publication of original scientific research that contributes to the understanding of the biology of embryonic development and the prenatal causative factors and mechanisms leading to adverse pregnancy outcomes, namely structural and functional birth defects, pregnancy loss, postnatal functional defects in the human population, and to the identification of prenatal factors and biological mechanisms that reduce these risks. Adverse reproductive and developmental outcomes may have genetic, environmental, nutritional or epigenetic causes. Accordingly, the journal Birth Defects Research takes an integrated, multidisciplinary approach in its organization and publication strategy. The journal Birth Defects Research contains separate sections for clinical and molecular teratology, developmental and reproductive toxicology, and reviews in developmental biology to acknowledge and accommodate the integrative nature of research in this field. Each section has a dedicated editor who is a leader in his/her field and who has full editorial authority in his/her area.