Del Refugio Rivera-Vega Maria, Gómez-Del Angel Luis A, Valdes-Miranda Juan M, Pérez-Cabrera Adrián, Gonzalez-Huerta Luz M, Toral-López Jaime, Cuevas-Covarrubias Sergio
Departamento de Genética Médica, Hospital General de México/Facultad de Medicina, Universidad Nacional Autónoma de México (UNAM), México, DF, México.
Cytogenet Genome Res. 2015;145(1):1-5. doi: 10.1159/000381234. Epub 2015 Apr 2.
Interstitial deletions of 7q show a wide phenotypic spectrum that varies with respect to the location and size of the deleted region. They lead to craniofacial dysmorphism with intellectual disability, growth retardation, and various congenital defects. Here, a Mexican girl with microcephaly, facial dysmorphism, short stature, hand anomalies, and intellectual disability was analyzed by CytoScan HD array. Her phenotype was associated with a de novo 7q22.3q32.1 deletion involving 109 loci, 57 of them listed in the OMIM database. This novel deletion increases the knowledge of the variability in the rupture sites of the region and expands the spectrum of molecular and clinical defects of the 7q deletion syndrome.
7q间质性缺失表现出广泛的表型谱，其因缺失区域的位置和大小而异。它们会导致伴有智力残疾、生长发育迟缓及各种先天性缺陷的颅面部畸形。在此，通过CytoScan HD阵列对一名患有小头畸形、面部畸形、身材矮小、手部异常及智力残疾的墨西哥女孩进行了分析。她的表型与一个涉及109个位点的新发7q22.3q32.1缺失相关，其中57个位点列于OMIM数据库中。这一新型缺失增加了对该区域断裂位点变异性的认识，并扩展了7q缺失综合征的分子和临床缺陷谱。
