一名患有皮埃尔·罗宾序列征、畸形和严重发育迟缓的患者6号染色体长臂的双间质缺失
Double Interstitial Deletion of the Long Arm of Chromosome 6 in a Patient with Pierre Robin Sequence, Dysmorphisms, and Severe Developmental Delay.
作者信息
Parmeggiani Giulia, Bigoni Stefania, Buldrini Barbara, Garani Giampaolo, Clauser Luigi, Galiè Manilo, Ferlini Alessandra, Fini Sergio
机构信息
UOL of Medical Genetics, Department of Reproduction and Growth and Department of Medical Science, Ferrara, Italy.
Neonatal Intensive Care Unit and Neonatology, Department of Reproduction and Growth and Department of Medical Science, Ferrara, Italy.
出版信息
Mol Syndromol. 2017 Dec;9(1):30-37. doi: 10.1159/000480159. Epub 2017 Sep 13.
Reported here is the case of a 1.8-year-old boy with a 9.6- Mb deletion in 6q13q14.1 and an 11.2-Mb deletion in 6q21q22.31, ascertained through array CGH, as the result of a complex de novo chromosome rearrangement. The clinical picture of this patient is characterized by severe psychomotor delay, dysmorphic features, and some congenital defects. Although, as reported in the literature, phenotypes associated with 6q deletions may vary, an attempt was made to associate the patient's symptoms to either deletion, comparing them to previously reported cases. Only a limited specific correlation was found, probably due to the prevalence of very common symptoms.
本文报告了一名1.8岁男孩的病例,通过阵列比较基因组杂交技术确定其6q13q14.1区域存在9.6 Mb的缺失,6q21q22.31区域存在11.2 Mb的缺失,这是一种复杂的新生染色体重排的结果。该患者的临床表现为严重的精神运动发育迟缓、畸形特征和一些先天性缺陷。尽管文献报道与6q缺失相关的表型可能有所不同,但我们试图将患者的症状与任何一个缺失相关联,并与先前报道的病例进行比较。由于非常常见的症状占主导,仅发现了有限的特定相关性。