Kale Trupti, Philip Melissa
The Wright Center for Graduate Medical Education, 501 Madison Avenue, Scranton, PA 18510, USA.
Case Rep Genet. 2016;2016:6046351. doi: 10.1155/2016/6046351. Epub 2016 Dec 8.
Interstitial deletions of the distal 7q region are considered a rare entity. In this report, we describe a seven-year-old male with a heterozygous interstitial deletion at 7q33-36.1 with characteristic dysmorphic facial features, intellectual disability, severe microcephaly, and significant language delay. The primary focus of our report is to compare our case with the few others in the literature describing interstitial deletions at the long arm of chromosome 7. Based on the various breakpoints in prior studies, a number of phenotypic variations have been identified that are unique to each of the reports. However, there are also a number of similarities among these cases as well. We hope to provide a concise review of the literature and genes involved within our deletion sequence in the hope that it will contribute to creating a phenotypic profile for this patient population.
7q远端区域的间质性缺失被认为是一种罕见的情况。在本报告中，我们描述了一名7岁男性，其7q33 - 36.1存在杂合性间质性缺失，伴有特征性的面部畸形、智力残疾、严重小头畸形和明显的语言发育迟缓。我们报告的主要重点是将我们的病例与文献中其他少数描述7号染色体长臂间质性缺失的病例进行比较。基于先前研究中的各种断点，已确定了许多表型变异，每个报告都有其独特之处。然而，这些病例之间也存在许多相似之处。我们希望对文献以及我们缺失序列中涉及的基因进行简要综述，以期有助于为该患者群体建立表型特征。
