Hou J W, Wang T R
Department of Pediatrics, National Taiwan University Hospital, Taipei.
Clin Genet. 1995 Sep;48(3):148-50. doi: 10.1111/j.1399-0004.1995.tb04075.x.
Fluorescence in situ hybridization (FISH) studies using whole chromosome 9 painting probe, classical satellite (9q12-specific) probe and abl cosmid probe (locus: 9q34) were performed on a female infant who was born with multiple congenital anomalies and the karyotype 46,XX, 9q+. The results of FISH confirm the euchromatic nature of the extra material on the long arm of chromosome 9, and provide evidence that it is of chromosome 9 origin. The structural rearrangement has probably resulted from an insertion of a duplicated segment 9q32-->q34.3 into band q13, as shown by the abl cosmid probe. The clinical features in this patient are similar to the previously reported cases of partial trisomy 9q3.
对一名患有多种先天性异常且核型为46,XX,9q+的女婴进行了荧光原位杂交（FISH）研究，使用了全染色体9绘画探针、经典卫星（9q12特异性）探针和abl黏粒探针（基因座：9q34）。FISH结果证实了9号染色体长臂上额外物质的常染色质性质，并提供证据表明其起源于9号染色体。如abl黏粒探针所示，结构重排可能是由于一个重复片段9q32→q34.3插入到q13带所致。该患者的临床特征与先前报道的部分9q3三体病例相似。
