Partial monosomy of 10p and duplication of another chromosome in two patients.
Partial monosomy of 10p and duplication of another chromosome in two patients.
复制标题
两名患者的 10p 部分单体性和另一条染色体重复。
DOI：
10.1111/ped.13181
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发表时间：
2017
期刊：
影响因子：
--
通讯作者：
Oka A.
中科院分区：
文献类型：
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作者：
Ohta S;Isojima T;Mizuno Y;Kato M;Mimaki M;Seki M;Sato Y;Ogawa S;Takita J;Kitanaka S;Oka A.
10 p部分单体性是一种罕见的染色体异常。常见的特征是甲状旁腺功能减退、耳聋、肾异常、独特的面容和智力低下，具有表型变异性。我们报告了两例单核苷酸多态性（SNP）阵列分析发现的染色体异常患者。虽然患者1具有单体10 p的共同特征，但G显带显示正常核型。SNP阵列和荧光原位杂交（FISH），然而，表明不平衡易位的10 p末端缺失11.7 Mb和15 q末端重复8.2 Mb。在患者2中，SNP阵列和FISH显示10 p末端缺失12.6Mb和7 q末端重复1.9Mb。这是第一例报告的单体10 p合并三体15 q（患者1）。由于10 p缺失综合征的临床异质性会受到另一条染色体重复的影响，我们强调SNP/微阵列分析是必要的，以确认基因型-表型相关性。
Partial monosomy of 10p is a rare chromosomal abnormality. Common features are hypoparathyroidism, deafness, renal anomalies, distinctive facies, and mental retardation, with phenotypic variability. We report two patients with chromosomal abnormalities identified on single‐nucleotide polymorphism (SNP) array analysis. Although patient 1 had common features of monosomy10p, G‐banding indicated a normal karyotype. SNP array and fluorescencein situhybridization (FISH), however, indicated unbalanced translocation of a 10p terminal deletion of 11.7 Mb and a 15q terminal duplication of 8.2 Mb. In patient 2, SNP array and FISH indicated a 10p terminal deletion of 12.6 Mb and a 7q terminal duplication of 1.9 Mb. This is the first case report of monosomy 10p combined with trisomy 15q (patient 1). Because the clinical heterogeneity of the 10p deletion syndrome would be affected by duplication of another chromosome, we emphasize that SNP/microarray analysis is necessary to confirm genotype–phenotype correlation.