临床结果：18号染色体短臂单体比18号染色体短臂四体更好。

Clinical outcome: a monosomy 18p is better than a tetrasomy 18p.

作者信息

Wei Jun, Xie Yingjun, He Wenyin, Liu Weiqiang, Jian Wei, Chen Min, Wang Ding, Wang Xiaoman, Sun Xiaofang

机构信息

Key Laboratory for Major Obstetric Diseases of Guangdong Province, Key Laboratory of Reproduction and Genetics of Guangdong Higher Education Institutes, The Third Affiliated Hospital of Guangzhou Medical University, Guangzhou, PR China.

出版信息

Cytogenet Genome Res. 2014;144(4):294-8. doi: 10.1159/000371461. Epub 2015 Jan 28.

DOI:10.1159/000371461

PMID:25634515

Abstract

We report the clinical and laboratory data of 2 patients with different rearrangements involving the short arm of chromosome 18, one with an isochromosome 18p (tetrasomy 18p) and the other with an 18p deletion (monosomy 18p by translocation t(15;18)). Based on molecular cytogenetic findings including high-resolution SNP array, FISH, and multiplex fluorescence PCR, we compared the clinical phenotypes of the 2 patients with other reported patients with 18p deletion, trisomy 18, and isochromosome 18p syndromes to obtain genotype/phenotype correlations. Our findings suggest that a partial monosomy 18p has the better clinical outcome than a tetrasomy 18p.

摘要

我们报告了2例涉及18号染色体短臂不同重排患者的临床和实验室数据，其中1例为18号染色体短臂等臂染色体（18p四体），另1例为18p缺失（通过t(15;18)易位导致18p单体）。基于包括高分辨率SNP阵列、荧光原位杂交（FISH）和多重荧光PCR在内的分子细胞遗传学研究结果，我们将这2例患者的临床表型与其他已报道的18p缺失、18三体和18号染色体短臂等臂染色体综合征患者进行了比较，以获得基因型/表型相关性。我们的研究结果表明，部分18p单体的临床预后比18p四体更好。