Rapid fetal karyotype from cystic hygroma and pleural effusions

Fluid from pleural effusion (n=2) and cystic hygroma (n=7) was obtained from eight fetuses, between 13 and 32 weeks of pregnancy at the time when a conventional prenatal diagnosis procedure was carried out. As these fluids contain lymphocytes, they were processed like peripheral blood. A karyotype was obtained in 4 days in both cases of pleural effusion and in four out of seven samples of cystic hygroma. An abnormal karyotype was detected in three of the four samples of cystic hygroma: two trisomies 21 and a monosomy X. Different parameters were evaluated in order to predict the feasibility of obtaining a cytogenetic diagnosis. Our data showed that if the amount of fluid obtained was ⩾4 ml and the initial lymphocyte count (ILC) was >0.2 × 10⁶ cells/ml, a cytogenetic diagnosis was possible from an initial concentration of cultured lymphocytes )ICCL) of >0.06 × 10⁶ cells/ml.     

团花锦蛇、绿锦蛇和三索锦蛇的核型及Ag-NORs

报道了锦蛇属团花锦蛇（Ｅ．ｄａｖｉｄｉ）、绿锦蛇（Ｅ．ｐｒｖｓｉｎａ）和三索锦蛇（Ｅ．ｒａｄｉａｔａ）３个种的核型和Ａｇ－ＮＯＲｓ,团花锦蛇的型２ｎ＝３６（８Ｖ＋６ｓＶ＋２Ｉ＋２０Ｍ）,绿锦蛇的核型２ｎ＝３６（７Ｖ＋７ｓＶ＋２Ｉ＋２０ｍ）,三索锦蛇的核型２ｎ＝４０（６Ｖ＋３ｓＶ＋２ｓＩ＋５Ｉ＋２４ｍ）;①团花锦蛇和绿锦蛇的染色体数目和结构与此属大多数咱的相似,;②此种为雄性,未见染色体异型。③Ａｇ     

雀形目八种鸟核型的比较研究

采用空气干燥法制备骨髓细胞染色体标本 ,报道了雀形目 5科 8种鸟的核型 ,其中八色鸫科为世界首次报道核型的科 .比较研究表明 :臂间倒位和小染色体缺失在所描述类群的染色体进化中起着重要作用 .图版 2表 6参 15     

Prenatal diagnosis of chromosomal abnormalities from chorionic biopsy samples: Improved success rate using a modified direct method

Several methods for fetal chromosome analysis using chorionic biopsy samples were compared. A modified direct method for culturing villi was considered to be the method of choice and details are presented of 186 pregnancies tested prenatally. The success rate in obtaining a fetal karyotype with the direct method was 93 per cent. The fetal loss rate in the prenatal series was 4.3 per cent and congenital abnormalities in the babies already born did not differ from the expected incidence.     

Chromosomal abnormalities associated with a single umbilical artery

A single umbilical artery was seen in 10 out of 117 cytogenetically abnormal pregnancies. The abnormal karyotypes found to be associated with a single umbilical artery were trisomy 18 (n = 5), monosomy X (n = 2), triploidy (n = 1), sex chromosome (47,XYY; n = 1) and translocation (46t(X,5)(q13p15); n = 1). With the exception of the translocation case, all cases with a single umbilical artery had anatomical defects which were detectable ultrasonographically. This suggests that a single umbilical artery alone is not an indication for prenatal fetal karyotyping.     

46,XY/47,XY,+ 17p+ mosaicism in amniocytes associated with fetal abnormalities despite normal fetal blood karyotype

46,XY/47,XY, + 17p + mosaicism was found in two primary amniotic fluid cultures (AFCs). Fetal blood karyotype was normal, but ultrasonography revealed Dandy-Walker malformation and bilateral choroid plexus cysts. Following termination of pregnancy, fetal examination revealed post-axial polydactyly and neuroblastoma-in-situ affecting both adrenals in addition to the cerebellar abnormalities. Mosaicism for the aberrant cell line was confirmed in all fetal tissues sampled and in the placenta.