7号染色体长臂部分缺失的儿童期病例研究进展.病人是一名三十六个月大的发育迟缓女童,轻度智力低下和骨龄延迟。她没有表现出刻板的迹象,上倾斜的睑裂,后背褶皱,低设定的耳朵,或扁平和宽阔的鼻梁。使用AffymetrixCytoScanHD阵列进行的微阵列测试显示,女孩和她的父亲在7q31.1处大约有58kb的缺失,暗示父系起源。由于患者没有特征性的面部特征,7q缺失没有被考虑。该病例扩大了7号染色体微缺失的病例表现范围。
Study advances with a childhood case of partial deletion of the long arm of chromosome 7. The patient is a 36-month-old girl with growth retardation, mild mental retardation and delayed bone age. She showed no signs of hypotelorism, upslanting palpebral fissures, epicanthal folds, low-set ears, or flat and broad nasal bridge. Microarray testing using the Affymetrix CytoScan HD array revealed an approximately 58 kb deletion at 7q31.1 in the girl and her father, suggesting paternal origin. As the patient had no characteristic facial features, 7q deletions had not been considered. This case broadens the range of case presentations for microdeletions of chromosome 7.