间质性1q25.3 - 32.1缺失一例：细胞遗传学分析、分子特征及超声检查结果
A new case of interstitial 1q 25.3-32.1 deletion: cytogenetic analysis molecular characterization and ultrasound findings.
作者信息
Libotte Francesco, Bizzoco Domenico, Gabrielli Ivan, Tamburrino Caterina, Ernandez Cristina, Carpineto Lorena, D'Aleo Maria Pia, Cima Antonella, Mesoraca Alvaro, Cignini Pietro, Aloisi Alessia, Angioli Roberto, Vitale Salvatore Giovanni, Giorlandino Claudio
机构信息
Department of Genetics, Altamedica Fetal Maternal Medical Centre, Rome, Italy.
Department of Prenatal Diagnosis, Altamedica Fetal Maternal Medical Centre, Rome, Italy.
出版信息
J Prenat Med. 2015 Jan-Jun;9(1-2):8-11. doi: 10.11138/jpm/2015.9.1.008.
INTRODUCTION
deletion of long arm of chromosome 1(1q-) is a rare condition. Clinical features include Dwarfism, severe mental retardation, microcephaly and short neck delineating the "intermediate 1q deletion syndrome".
CASE REPORT
we report a new case of interstitial deletion of the long arm of chromosome 1, diagnosed in a 22+3 weeks gestation fetus in which cytogenetic analysis localized a loss of genetic materials of 18Mb in the 1q25.3-32.1. Fetal ultrasound showed neurodegenerative defects resembling Dandy-Walker's syndrome and bilateral clubfoot.
CONCLUSIONS
clinical characteristics of our case are markedly mild. This suggests that the type and the extension of the mutation obtained through cytogenetic studies, CGH array and ultrasound evaluation should be taken into account for prognostic evaluation and management of these patients.
引言
1号染色体长臂缺失（1q-）是一种罕见病症。临床特征包括侏儒症、严重智力发育迟缓、小头畸形和短颈，这些特征描绘了“中间型1q缺失综合征”。
病例报告
我们报告了1例新的1号染色体长臂间质性缺失病例，该病例在一名孕22 + 3周的胎儿中被诊断出来，细胞遗传学分析确定在1q25.3 - 32.1区域有18Mb的遗传物质丢失。胎儿超声检查显示出类似丹迪-沃克综合征的神经退行性缺陷和双侧马蹄内翻足。
结论
我们病例的临床特征明显较轻。这表明，在对这些患者进行预后评估和管理时，应考虑通过细胞遗传学研究、比较基因组杂交阵列和超声评估所获得的突变类型和范围。
Zotero 插件