Cytological and cytogenetical analysis of thoracic duct lymph in patients with pulmonary carcinomas

Seven patients with squamous cell carcinomas of the lung and nodular metastases underwent Daniels' biopsy and cannulation of the thoracic duct. Lymph specimens obtained by aspiration the day after catheter insertion were examined by cytologic and cytogenetical techniques, including chromosome banding methods. In five of the seven cases malignant cells could be detected by karyotype analysis, whereas standard cytologic examinations yielded no positive diagnoses. This indicates that chromosome analysis is applicable as a diagnostic tool in lymph fluid.     

Ring chromosome 21 in a phenotypically normal but infertile man

Analysis of the karyotype of an azoospermic 27-year-old man, without any dysmorphism, showed the presence of a ring chromosome 21.     

"Pre-B" phenotypes in blast crisis of Ph1 positive CML: evidence for a pluripotential stem cell "target".

Twenty six cases of Ph¹ positive acute leukaemia, either CML in blast crisis (20 patients) presenting with acute leukaemia (6 patients) were tested with a panel of membrane markers, enzyme assays and for cytoplasmic IgM, the latter being a marker of the earliest detectable cells in the B cell lineage (—“pre-B” cells). Nineteen cases are described with the same same “lymphoid” phenotype as Ph¹ negative common ALL, and three of these, all CML in blast crisis, had leukaemic cells with a pre-B phenotype. In two further cases a minority population of leukaemic cells had a similar pre-B phenotype. Two of the former cases are described in detail. These data provide evidence for Ph¹ chromosome expression in the B cell lineage in patients with CML; this is suggested to reflect the existence of a common progenitor of lymphoid and myeloid lineages in humans, providing a “target” cell for the Ph¹ chromosomal alteration and leukaemia.     

Hypothalamic growth hormone deficiency in a patient with ring chromosome 18

We report on a boy with a ring 18 chromosome associated with hypothalamic growth hormone (GH) deficiency. A 12-month trial of GH replacement therapy (0.5 U/kg/week) resulted in a marked growth acceleration. Our findings emphasise the need of evaluating GH secretion in patients with abnormalities of the 18 chromosome.     

A girl with 71,XXXXY karyotype

A girl with a 71,XXXXY karyotype is described. Internal and external genitalia were female despite the presence of a Y-chromosome.     

离体人血受照后染色体培养中若干问题的探讨

探讨了人离体血经X线照射后，染色体培养过程中松胞素B（Cyt-B)及培养时间对分裂指数（MI）的影响。结果表明：（1）0-15Gy照射，培养体系中加入Gyt-B，MI均有所增加；10Gy以上影响较在，25Gy不再有影响。（2）6-25Gy，延长培养时间MI明显增加，在6-10G 间仅靠延长时间即可获足够分析用的分裂像。（3）加Cyt-B的同时延长培养时间，其MI高于单纯加Gyt-B或延长时间者，特别是15Gy，昭后只有加Gyt-B同时延长培养时间才能使MI增多至可供分析，以上结果提示：（1）辐射事故中当以染色体畸变估算大于6Gy受昭者的剂量时，必须延长培养时间，有条件者加Cyt-B方可增加培养成功的机会，提供足够的分裂像。（2）改变培养条件，加Cyt-B并延长培养时间有可能制定出剂量上限高于5Gy的剂量效应刻度曲线，从而进一步提高其作为生物剂量计的临床应用价值。     

Dental morphology of 45,XO human females: Molar cusp area, volume, shape and linear measurements

A three-dimensional analysis of the maxillary first molars of five 45,XO females and comparison with normal females and males demonstrated a reduction of cusp areas and volumes in the 45,XO females. Mesiodistal and faciolingual dimensions were also reduced. The reductions in basal area and volume were greater in the later developing, distal cusps. In normal females the second X chromosome apparently does not exert an effect on the cusp height but increases the basal area. The results further indicate that the Y chromosome in normal males increases both cusp height and basal area. The steepest cusps were found in 45,XO females while the shallowest were in the control males. Both sex chromosomes thus seem to affect the shape of the cusp but the resulting phenotypes differ.     

小儿脑性瘫痪外周血淋巴细胞染色体高分辨显带研究

本文采用Ｔａｔｓｕｒｏ的方法对５Ｏ例脑性瘫痪（ＣＰ）患儿外周血淋巴细胞染色体做了高分辨显带研究，发现异常核型８例。占１６％；经分组研究表明，无ＣＰ高危因素和／或家族史中癫痫ＣＰ及低智者，其染色体异常率远高于有ＣＰ高危因素而无上述家族史的ＣＰ患儿，经卡方（Ｘ２）检验有高度统计学意义（Ｐ＜０．０１），并对染色体异常与ＣＰ的相关性做了探讨；对其中２０例ＣＰ的脑ＭＲＩ改变进行了初步分析。     

A new chromosome 9 variant: an extra band within the 9qh region

An extra G-positive band within the 9qh regions is reported as a new chromosome 9 variant. This variant may have been more prevalent than has hitherto been perceived. Due to its small size, this extra band might not be readily recognizable in routine G-staining.     

雷公藤对小鼠染色体畸变的影响

本文以染色体畸变为指标,评价雷公藤对小鼠遗传物质的影响。结果表明,15mg/g、20mg/g和25mg/g均可引起染色体畸变。畸变率分别为4.3%、5.9％及24.0％,且与药物浓度有一定的相关性,均较环磷酰胺(42.6％)为低。但染色体断裂(单断及双断)所占的比率,分别为50.0％、61.7％及56.8％,与环磷酰胺(56.0％)相接近.