Piovani Giovanna, Savio Giulia, Traversa Michele, Pilotta Alba, De Petro Giuseppina, Barlati Sergio, Magri Chiara
Biology and Genetics Division, Department of Molecular and Translational Medicine, University of Brescia, Viale Europa 11, 25123 Brescia, Italy.
Centro di Auxoendocrinologia, Department of Paediatrics, Spedali Civili, Brescia, Italy.
Mol Cytogenet. 2014 Apr 15;7:25. doi: 10.1186/1755-8166-7-25. eCollection 2014.
We report on a nine years old girl born after 41 weeks of normal gestation with psychomotor retardation, speech delay and minimal dysmorphic signs: antimongolic cut eyes, small mouth, short philtrum and hypertelorism. The use of the high-resolution Affymetrix Human Mapping GeneChip 250 K NspI array allowed the characterization of a de novo 1Mb deletion on the short arm (p22) of a chromosome 8. Molecular cytogenetic-FISH with BAC probes (RP11) confirmed the deletion. The deleted region includes part of the sarcoglycan zeta (SGCZ) gene, involved in the sarcoglycan complex formation, and the microRNA 383. The deletion described in our patient falls 319 Kb upstream of the Tumor Suppressor Candidate 3 (TUSC3) gene. In this chromosomal region, a limited number of cases of overlapping deletions, of variable extensions and characterized by heterogeneous clinical phenotype, have been reported. The deleted region described in our patient is the smallest among those so far described in this region.
我们报告了一名9岁女孩，她在正常妊娠41周后出生，有精神运动发育迟缓、语言发育迟缓以及轻微的畸形体征：眼裂呈反蒙古样、小嘴、人中短和眼距增宽。使用高分辨率的Affymetrix Human Mapping GeneChip 250K NspI芯片对8号染色体短臂（p22）上一个新的1Mb缺失进行了特征分析。用BAC探针（RP11）进行的分子细胞遗传学荧光原位杂交（FISH）证实了该缺失。缺失区域包括参与肌聚糖复合物形成的肌聚糖ζ（SGCZ）基因的一部分以及微小RNA 383。我们患者中描述的缺失位于肿瘤抑制候选基因3（TUSC3）上游319Kb处。在这个染色体区域，已经报道了数量有限的重叠缺失病例，其范围各异且具有异质性临床表型。我们患者中描述的缺失区域是该区域迄今为止所描述的最小区域。
