Chen C-P, Lin S-P, Chern S-R, Tsai F-J, Lee M-S, Chen Y-J, Wang W
Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan.
Genet Couns. 2011;22(4):425-30.
We report the cytogenetic and molecular characterization of a 22.3-Mb pure interstitial duplication of chromosome 7q, dup(7)(q31.2-->q33) in a 4-year-old girl with growth restriction, short stature, speech delay, inguinal hernia, strabismus and intellectual disability. We speculate that the gene dosage increase effect of the ING3 and LEP genes may be partially responsible for the phenotype of growth restriction and short stature in this patient.
我们报告了一名4岁女童的细胞遗传学和分子特征，该女童存在7号染色体q臂22.3 Mb的纯合间质重复，即dup(7)(q31.2→q33)，伴有生长受限、身材矮小、语言发育迟缓、腹股沟疝、斜视和智力障碍。我们推测ING3和LEP基因的基因剂量增加效应可能部分导致了该患者生长受限和身材矮小的表型。
