Wiktor A, Feldman G L, Kratkoczki P, Ditmars D M, Van Dyke D L
Medical Genetics and Birth Defects Center, Henry Ford Hospital, Detroit, Michigan 48202.
Am J Med Genet. 1994 Sep 1;52(3):315-8. doi: 10.1002/ajmg.1320520312.
We describe a patient with severe failure to thrive, mild-moderate developmental delay, cleft lip and palate, and other anomalies. Routine cytogenetic analysis documented a de novo chromosome rearrangement involving chromosome 4, but the origin of the derived material was unknown. Using chromosome specific painting probes, the karyotype was defined as 46,XY,der(4) t(4;10)(q35;p11.23). Characterization of the dup(10p) by fluorescence in situ hybridization (FISH) analysis provides another example of the usefulness of this technology in identifying small deletions, duplications, or supernumerary marker chromosomes.
我们描述了一名患有严重生长发育迟缓、轻度至中度发育延迟、唇腭裂及其他异常的患者。常规细胞遗传学分析记录到一条涉及4号染色体的新发染色体重排，但衍生片段的来源不明。使用染色体特异性涂染探针，核型被确定为46,XY,der(4) t(4;10)(q35;p11.23)。通过荧光原位杂交（FISH）分析对dup(10p)进行特征描述，为该技术在识别小的缺失、重复或额外标记染色体方面的实用性提供了另一个例子。
