Bartsch O, Aksu F, Fenner A, Schwinger E
Institut für Humangenetik, Medizinische Universität, Lübeck.
Monatsschr Kinderheilkd. 1992 Aug;140(8):460-3.
In 1983, a chromosome analysis was carried out in a newborn preterm infant with minor anomalies (preauricular skin tag, maldescensus testis). All analysed metaphases showed a small extra chromosome, which was symmetric, dicentric and bi-satellited. In spite of in depth analysis, its origin remained obscure. Recent re-evaluation using fluorescence in situ hybridization (FISH) led to the diagnosis of a dicentric chromosome 22. The FISH technique is an important new tool in chromosome diagnostics. The phenotype of this infant only vaguely resembles the cat eye syndrome. The syndrome should be diagnosed clinically and not only based on the results of chromosome analysis.
1983年，对一名患有轻微异常（耳前皮肤赘生物、睾丸下降不全）的早产新生儿进行了染色体分析。所有分析的中期细胞均显示有一条小的额外染色体，该染色体对称、双着丝粒且有双随体。尽管进行了深入分析，其来源仍不清楚。最近使用荧光原位杂交（FISH）重新评估后诊断为双着丝粒22号染色体。FISH技术是染色体诊断中的一项重要新工具。该婴儿的表型仅与猫眼综合征有模糊的相似之处。该综合征应通过临床诊断，而不能仅基于染色体分析结果。
