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首页> 外文期刊>Case Reports in Genetics >Clinical, Cytogenetic, and Biochemical Analyses of a Family with a t(3;13)(q26.2;p11.2): Further Delineation of 3q Duplication Syndrome
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Clinical, Cytogenetic, and Biochemical Analyses of a Family with a t(3;13)(q26.2;p11.2): Further Delineation of 3q Duplication Syndrome

机译：具有t（3; 13）（q26.2; p11.2）的家庭的临床，细胞遗传学和生化分析：3q复制综合征的进一步描述

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摘要

Chromosomal abnormalities that result in genomic imbalances are a major cause of congenital and developmental anomalies. Partial duplication of chromosome 3q syndrome is a well-described condition, and the phenotypic manifestations include a characteristic facies, microcephaly, hirsutism, synophrys, broad nasal bridge, congenital heart disease, genitourinary disorders, and mental retardation. Approximately 60%–75% of cases are derived from a balanced translocation. We describe a family with a pure typical partial trisomy 3q syndrome derived from a maternal balanced translocation t(3;13)(q26.2;p11.2). As the chromosomal rearrangement involves the short arm of an acrocentric chromosome, the phenotype corresponds to a pure trisomy 3q26.2-qter syndrome. There are 4 affected individuals and several carriers among three generations. The report of this family is relevant because there are few cases of pure duplication 3q syndrome reported, and the cases described here contribute to define the phenotype associated with the syndrome. Furthermore, we confirmed that the survival until adulthood is possible. This report also identified the presence of glycosaminoglycans in urine in this family, not related to the chromosomal abnormality or the phenotype.
机译：导致基因组失衡的染色体异常是先天性和发育异常的主要原因。染色体3q综合征的部分复制是一种描述良好的疾病，其表型表现包括特征性相，小头畸形，多毛症，滑膜炎，宽鼻梁桥，先天性心脏病，泌尿生殖系统疾病和智力低下。大约60％–75％的病例来自平衡易位。我们描述了一个纯正的典型的三体性三体性三q综合征的家庭，该综合征源自母体平衡易位t（3; 13）（q26.2; p11.2）。由于染色体重排涉及acrocentric染色体的短臂，因此该表型对应于纯三体性3q26.2-qter综合征。在三代人中有4个受影响的个体和几个携带者。该家族的报告具有相关性，因为报告的纯重复3q综合征病例很少，这里描述的病例有助于定义与该综合征相关的表型。此外，我们证实存活至成年是可能的。该报告还确定了该家族尿液中糖胺聚糖的存在，与染色体异常或表型无关。

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