一名患有15q21.2q22.1新发间质性缺失的儿童出现轻度智力发育迟缓：与既往报道病例的比较
Mild mental retardation in a child with a de novo interstitial deletion of 15q21.2q22.1: a comparison with previously described cases.
作者信息
Tempesta Sergio, Sollima Danila, Ghezzo Sara, Politi Valeria, Sinigaglia Barbara, Balducci Federica, Celso Bommina, Restuccia Antonino, Stefani Marina, Cernetti Roberta, Marzocchi Cinzia, Ciccone Roberto, Zuffardi Orsetta, Bovicelli Luciano, Santarini Loredana
机构信息
Medical Genetics Laboratory, Tecnobios Prenatale srl, Bologna, Italy.
出版信息
Eur J Med Genet. 2008 Nov-Dec;51(6):639-45. doi: 10.1016/j.ejmg.2008.07.010. Epub 2008 Aug 12.
We report on a child with mild mental retardation, hypotelorism, blepharophimosis, face slight asymmetry and partial hypoplasia of corpus callosum, with an interstitial deletion of a chromosome 15. The deletion was molecularly characterized by array-CGH and FISH techniques. This rearrangement has a 7.18Mb extension and maps to 15q21.2q22.1. To date, there have been only six individuals reported with a deletion of 15q21; in three cases, the rearrangement was characterized by molecular cytogenetic techniques. After a comparison with these three cases, it appeared that the deletion we found is one of the smallest and it overlaps the distal portion of the ones taken into account. Finally, we tried to delineate the genotype-phenotype correlation in patients with a deletion of 15q21.
我们报告了一名患有轻度智力障碍、眼距过窄、睑裂狭小、面部轻度不对称以及胼胝体部分发育不全的儿童，其15号染色体存在间质性缺失。通过阵列比较基因组杂交（array-CGH）和荧光原位杂交（FISH）技术对该缺失进行了分子特征分析。这种重排延伸了7.18Mb，定位于15q21.2q22.1。迄今为止，仅有6例报告的15q21缺失病例；其中3例通过分子细胞遗传学技术对重排进行了特征分析。与这3例病例进行比较后发现，我们所发现的缺失是最小的缺失之一，并且与所考虑的其他缺失的远端部分重叠。最后，我们试图描绘15q21缺失患者的基因型-表型相关性。
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