一名患有智力障碍和畸形特征的儿童中，通过中期比较基因组杂交（CGH）和阵列CGH鉴定出的新发2号和4号染色体不平衡易位。
De novo unbalanced translocation 2;4 characterized by metaphase CGH and array CGH in a child with mental retardation and dysmorphic features.
作者信息
Debost-Legrand A, Capri Y, Gouas L, Pebrel-Richard C, Veronese L, Tchirkov A, Haoud K, Boespflug-Tanguy O, Goumy C, Vago P
机构信息
Service de Cytogénétique Médicale, Faculté de Médecine, CHU Clermont-Ferrand, Université Clermont 1, BP 38, 1 place Lucie-Aubrac, 63003 Clermont-Ferrand cedex 1, France.
出版信息
Pathol Biol (Paris). 2011 Dec;59(6):309-13. doi: 10.1016/j.patbio.2010.11.004. Epub 2010 Dec 9.
BACKGROUND
It is known from postnatal diagnosis that imbalances of the subtelomeric regions contribute significantly to idiopathic mental retardation.
PATIENT AND METHODS
We report a case of a 4-year-old child with growth retardation, minor physical abnormalities, hypotonia and developmental delay associated with a derivative chromosome 4. Molecular cytogenetic investigations were performed to characterize the chromosomal rearrangement.
RESULTS
Multi fluorescence in situ hybridization revealed the presence of chromosome 2 material on the derivative chromosome 4. Metaphase comparative genomic hybridization detected a terminal 4q34 deletion. Array CGH analysis could precise breakpoints with duplication 2q36 → qter. The clinical phenotype was similar to those described in cases with a trisomy 2qter.
CONCLUSION
This study emphasizes the value of array CGH to detect or characterize chromosome rearrangements in mentally retarded patients. Unlike metaphase CGH, the high resolution of array CGH in subtelomeric regions allows an accurate description of chromosomal aberrations.
背景
产后诊断表明，亚端粒区域失衡是导致特发性智力迟钝的重要因素。
患者与方法
我们报告了一例4岁儿童病例，该患儿生长发育迟缓、有轻微身体异常、肌张力减退以及与衍生4号染色体相关的发育延迟。进行了分子细胞遗传学研究以表征染色体重排。
结果
多重荧光原位杂交显示衍生4号染色体上存在2号染色体物质。中期比较基因组杂交检测到4q34末端缺失。阵列比较基因组杂交分析可精确确定断点以及2q36→qter重复。临床表型与2qter三体病例中所描述的相似。
结论
本研究强调了阵列比较基因组杂交在检测或表征智障患者染色体重排方面的价值。与中期比较基因组杂交不同，阵列比较基因组杂交在亚端粒区域的高分辨率能够准确描述染色体畸变。
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