Srebniak Malgorzata I, Boter Marjan, Verboven-Peerden Carla Ma, Looye-Bruinsma Gerda Ag, Oudesluijs Gretel, Galjaard Robert-Jan H, Van Opstal Diane
Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, Dr Molewaterplein 50, 3015 GE, the Netherlands.
Mol Cytogenet. 2011 Dec 2;4(1):27. doi: 10.1186/1755-8166-4-27.
Recent development of MLPA (Multiplex-Ligation-dependent Probe Amplification, MRC-Holland) and microarray technology allows detection of a wide range of new submicroscopic abnormalities. Publishing new cases and case reviews associated with both clinical abnormalities and a normal phenotype is of great value.
FINDINGS/RESULTS: We report on two phenotypically normal foetuses carrying a maternally-inherited interstitial submicroscopic abnormality of chromosome 18p11.32. Both abnormalities were found with the aneuploidy MLPA kit P095 during rapid aneuploidy detection, which was offered along with conventional karyotyping. Foetus 1 and its mother have a 1,7 Mb deletion and foetus 2 and its mother have a 1,9 Mb duplication. In both cases normal babies were born. We used the HumanCytoSNP-12 array of Illumina to visualize the CNVs and map the breakpoints.
We suggest that a CNV at 18p11.32 (528,050-2,337,486) may represent a new benign euchromatic variant.
MLPA（多重连接依赖探针扩增技术，MRC-荷兰公司）和微阵列技术的最新进展使得能够检测到广泛的新型亚微观异常。发表与临床异常和正常表型相关的新病例及病例综述具有重要价值。
我们报告了两例表型正常的胎儿，他们携带母系遗传的18号染色体p11.32区域亚微观间质异常。这两种异常均在快速非整倍体检测过程中通过非整倍体MLPA试剂盒P095检测到，该检测与传统核型分析同时进行。胎儿1及其母亲有一个1.7 Mb的缺失，胎儿2及其母亲有一个1.9 Mb的重复。两例均出生了正常婴儿。我们使用Illumina公司的HumanCytoSNP-12芯片来可视化拷贝数变异（CNV）并绘制断点图。
我们认为18p11.32（528,050 - 2,337,486）处的CNV可能代表一种新的良性常染色质变异。
Zotero 插件