Department of Genetics and Genomic Sciences, Mount Sinai School of Medicine, New York, New York, USA.
Am J Med Genet A. 2011 Oct;155A(10):2508-11. doi: 10.1002/ajmg.a.34180.
A 28-month-old Peruvian male presented with speech delay and unusual facial features including prominent forehead, anteverted nares, ocular hypertelorism, and low-set and posteriorly rotated ears with a unilateral preauricular pit. The patient had poor speech with no other developmental delays. Height and weight were normal, although closure of the anterior fontanel and bone age were delayed. Head circumference approximated the 95th centile for age. Following normal routine chromosome analysis and subtelomeric FISH, whole genome microarray revealed a novel interstitial duplication at 7p22.1, approximately 1.7 Mb in size, and containing 13 OMIM annotated genes. FISH studies on the propositus and his parents confirmed that the duplication had occurred de novo. This finding represents the smallest interstitial 7p duplication reported to date, and does not include genes previously implicated as candidates for a 7p duplication syndrome. Common phenotypic features of 7p duplication include distinctive facies with hypertelorism,large anterior fontanel, and intellectual disability. Based on the findings in our patient, and those in previously reported cases of 7p duplication, we propose that genes within this duplicated interval may have a role in skeletal maturation,craniofacial development, and speech acquisition.
一名 28 个月大的秘鲁男性出现语言发育迟缓，以及异常的面部特征，包括突出的额头、前鼻孔外翻、眼球突出、低位和后旋耳，单侧耳前凹。患儿言语能力差，无其他发育迟缓。身高和体重正常，但前囟门闭合和骨龄延迟。头围接近年龄的第 95 个百分位。在进行了正常的常规染色体分析和端粒 FISH 后，全基因组微阵列显示 7p22.1 存在一个新的、约 1.7Mb 大小的、包含 13 个 OMIM 注释基因的片段性重复。先证者及其父母的 FISH 研究证实该重复是从头发生的。这一发现代表了迄今为止报道的最小的 7p 片段性重复，不包括以前被认为是 7p 重复综合征候选基因的基因。7p 重复的常见表型特征包括特有的面中部扁平、宽前囟门和智力障碍。基于我们患者的发现，以及之前报道的 7p 重复病例的发现，我们提出该重复区间内的基因可能在骨骼成熟、颅面发育和言语习得中发挥作用。
