AZFc deletion detected in a newborn with prenatally diagnosed Yq deletion

A case of prenatally diagnosed Yq deletion is described. Fluorescence in situ hybridisation (FISH) was used to identify the abnormal chromosome and to exclude mosaicism. Based on the cytogenetic result and the ultrasound investigation the pregnancy was continued. A newborn with normal male genitalia was delivered. Microdeletion analysis of the Yq showed the absence of the AZFc region. This type of deletion has been described as being associated with azoospermia or oligozoospermia with a progressive decrease of sperm number over time. Long-term andrological follow-up of the newborn will be necessary with eventual cryoconservation of sperm at early adulthood. The present report proposes that AZF analysis combined with FISH has an important role in accurate genetic counselling in sex chromosome anomalies. Copyright © 2001 John Wiley & Sons, Ltd.     

Multicolour spectral karyotyping for complex chromosomal rearrangements in repeated abortion or congenital anomalies

Advances in molecular cytogenetics, especially the technique of fluorescence in situ hybridization (FISH), have allowed more precise definition of chromosomal structures, which are difficult to identify using conventional G-banding. Recently, a novel approach based on hybridization of 24 fluorescent-labelled chromosome painting probes was developed, termed spectral karyotyping (SKY), which allows the simultaneous and differential colour display of all human chromosomes. We have used SKY to identify not only five parental complex translocation carriers but also minute chromosome rearrangements in the fetus. Here, we concentrate attention on the clinical application of SKY for prenatal diagnosis. Copyright © 2001 John Wiley & Sons, Ltd.     

Duplication of 9 p11.2-p13.1: a benign cytogenetic variant

The detection of very rare variants in prenatal diagnosis often causes counseling difficulties and anxiety in parents. We describe a duplication of the proximal region of chromosome 9 short arm in two cases of prenatal diagnosis and in one young woman, with evidence that such rearrangement is an uncommon variant. The duplication was investigated using Fluorescence in situ hybridization (FISH). Although the cytogenetic findings were indicative of a ‘duplication 9p syndrome’ associated with mental and developmental retardation, we were able to demonstrate that the rearrangement was a heteromorphism with no phenotypic consequence. We also determined the breakpoint regions of the rearrangement and identified the BAC probes that precisely define the duplicated region devoid of risk of phenotypic effects. Copyright © 2004 John Wiley & Sons, Ltd.     

辽河流域水诱发蚕豆根尖细胞遗传损伤的研究

以辽河流域12个不同断面的河水为诱变剂,运用蚕豆根尖微核检测技术和染色体畸变实验方法,测定蚕豆根尖细胞的有丝分裂指数、微核率和染色体畸变率。结果表明:不同断面的河水均能降低蚕豆根尖细胞有丝分裂指数,能诱发较高频率的微核和染色体畸变,产生染色体断片、核突起和核碎裂。所有样点微核率和染色体畸变率均高于对照组。根据采样点水质污染指数分析可知,福德店水质属重度污染,东辽河、条子河、红庙子水质属中度污染,招苏台河水质属轻度污染。