10p15.3区域存在1.08Mb缺失的新患者的分子与临床特征
Molecular and clinical characterization of new patient with 1,08 Mb deletion in 10p15.3 region.
作者信息
Poluha Anna, Bernaciak Joanna, Jaszczuk Ilona, Kędzior Marta, Nowakowska Beata Anna
机构信息
Department of Pediatric Hematology, Oncology and Transplantation Children's University Hospital, Lublin, Poland.
Department of Medical Genetics, Cytogenetics, Institute of Mother and Child, Kasprzaka 17, A 01-211 Warsaw, Poland.
出版信息
Mol Cytogenet. 2017 Sep 7;10:34. doi: 10.1186/s13039-017-0336-2. eCollection 2017.
BACKGROUND
Three distinct contiguous gene deletion syndromes are located at 10p chromosomal region. The deletion, involving 10p15.3 region, has been characterized by (DeScipio et al., Am J Med Genet A 158A:2152-61, 2012). However, because of the variation in size of the described deletions and lack of knowledge about the involved genes, the correlation between genotypes and patients' phenotypes remains unknown.
CASE PRESENTATION
We describe female patient with de novo 1,08 Mb deletion in 10p15.3 region, similar to the patient nr seven reported by (DeScipio et al., Am J Med Genet A 158A:2152-61, 2012) but with more severe clinical features. Our patient demonstrated speech and motor delay, dysmorphic features, brain abnormalities and Tetralogy of Fallot with pulmonary atresia.
CONCLUSIONS
This case shows the importance of collection of more patients with deletion in order to obtain a more precise physical map of 10p region.
背景
三种不同的相邻基因缺失综合征定位于10号染色体区域。涉及10p15.3区域的缺失已由（德西皮奥等人，《美国医学遗传学杂志A》158A：2152 - 61，2012年）进行了特征描述。然而，由于所描述的缺失大小存在差异且对所涉及基因缺乏了解，基因型与患者表型之间的相关性仍然未知。
病例报告
我们描述了一名女性患者，其10p15.3区域存在1.08 Mb的新发缺失，与（德西皮奥等人，《美国医学遗传学杂志A》158A：2152 - 61，2012年）报道的患者7相似，但临床特征更为严重。我们的患者表现出言语和运动发育迟缓、畸形特征、脑部异常以及法洛四联症合并肺动脉闭锁。
结论
该病例表明收集更多缺失患者的重要性，以便获得更精确的10p区域物理图谱。
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