Ning Y, Laundon C H, Schröck E, Buchanan P, Ried T
Gene Care Medical Genetics Center and George Washington University, Washington, DC 20037, USA.
Prenat Diagn. 1999 May;19(5):480-2.
A de novo mosaic extra structurally abnormal chromosome (ESAC) was detected in 33 per cent of cultured amniotic fluid cells from a pregnant woman. Neither Q-banding nor fluorescence in situ hybridization (FISH) employing a DNA probe for nucleolar organizer region demonstrated the presence of satellites on the ESAC. Spectral karyotyping (SKY) was performed in this prenatal case and led to a quick and accurate determination of the ESAC as chromosome 14 in origin. The SKY finding was confirmed by conventional FISH analysis using a chromosome 14 specific painting probe. Subsequent hybridizations with a centromeric probe and a 14q subtelomeric probe were also performed to further characterize the ESAC. Absence of (TTAGGG)n sequence on the ESAC, determined postnatally, suggested it is a ring chromosome 14. Genetic counselling concerning these findings was provided to the parents who chose to continue the pregnancy. The male infant had no apparent abnormal phenotype at birth.
在一名孕妇的33%的培养羊水细胞中检测到一条从头发生的嵌合型结构异常额外染色体（ESAC）。采用核仁组织区DNA探针的Q显带和荧光原位杂交（FISH）均未显示ESAC上存在随体。对该产前病例进行了光谱核型分析（SKY），并快速准确地确定ESAC起源于14号染色体。使用14号染色体特异性涂染探针的传统FISH分析证实了SKY的结果。随后还进行了着丝粒探针和14q亚端粒探针的杂交，以进一步表征ESAC。产后确定ESAC上不存在（TTAGGG）n序列，提示它是一条14号环状染色体。已就这些发现向选择继续妊娠的父母提供了遗传咨询。男婴出生时无明显异常表型。
