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一例11岁患Wolf氏综合征的男孩由皮肤活检建立的成纤维细胞培养物,发现其第4号染色体短臂末端缺失。该患者出现多种异常,包括智力迟钝,小头,两眼距宽,眼睑斜裂,斜视及尿道下裂等。患者的细胞培养表明,染色体核型为46,XY,del(4)(pter→p14:),即第4号染色体短臂末端到短臂1区4带断裂缺失,这应当可用于基因定位的研究。细胞培养中的亚群(33％)有一个第7号染色体长臂增加(7q~+)以及第4号
An 11-year-old boy with Wolf’s syndrome was biopsied from a fibroblast culture and found to have a short arm distal to chromosome 4. The patient showed a variety of abnormalities, including mental retardation, small head, wide eyes, eyelid oblique, strabismus and hypospadias. Cell culture in patients showed a chromosome karyotype of 46, XY, del (4) (pter → p14 :), ie, a deletion of the 4-band cleavage at the short arm to the short arm in the short arm from chromosome 4, which should be available for gene mapping the study. Subsets in cell culture (33%) had a long arm increase on chromosome 7 (7q ~ +) and no. 4