Chen C-P, Lin S-P, Su Y-N, Su J-W, Chern S-R, Town D-D, Wang W
Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan.
Genet Couns. 2012;23(2):215-21.
We report cytogenetic and molecular characterization of a 15.63-Mb pure distal deletion of chromosome 9p (9p22.3-->pter) in a l 1/2-year-old female infant with cerebral palsy and diffuse cerebral dysfunction. The deletion is of paternal origin and encompasses the genes of ANKRDS15, DOCK8, FOXD4 and VLDLR. We discuss the genotype-phenotype correlation in this case with neurological dysfunction and a distal 9p deletion of paternal origin.
我们报告了一名1岁半患有脑瘫和弥漫性脑功能障碍的女婴9号染色体短臂（9p22.3→pter）15.63Mb纯合远端缺失的细胞遗传学和分子特征。该缺失源自父方，包含ANKRDS15、DOCK8、FOXD4和VLDLR基因。我们讨论了该病例中神经功能障碍与父源9号染色体短臂远端缺失的基因型-表型相关性。
