Characterization of marker chromosomes by microdissection and fluorescence in situ hybridization

We characterized by microdissection and fluorescence in situ hybridization (FISH) two marker chromosomes: (1) a de novo, acrocentric marker chromosome detected in 88 per cent of the amniotic fluid cells of one of two physically and developmentally normal twins; and (2) a metacentric marker chromosome present in a phenotypically normal female. Analysis of FISH probes developed from the marker chromosomes indicated that the marker chromosomes in cases 1 and 2 were del(14)(q11) and a derivative chromosome from a Robertsonian translocation, respectively. Microdissection in combination with FISH may prove to be a valuable technique in determining the chromosomal origin of de novo marker chromosomes and unbalanced structural rearrangements detected during prenatal diagnosis.     

Maternal age specific rates for chromosome aberrations and factors influencing them: Report of a collaborative european study on 52 965 amniocenteses

Maternal age specific rates for all major chromosome aberrations have been determined in 52 965 pregnancies in mothers 35 years of age and over at the time of amniocentesis. Rates increase exponentially with advancing maternal age for trisomies 21, 18 and 13, and for the XXX and XXY syndromes, but in the autosomal trisomies this rise appears to be followed by a levelling off at the upper end of the age range. A significant inverse relationship with maternal age is found for 45,X cases. It is postulated that these various patterns are the result of the interaction of three principal factors: a maternal age effect acting particularly on first meiotic nondisjunction: a higher spontaneous abortion rate with advancing maternal age for aneuploid as compared to euploid conceptions; and an increased probability of spontaneous abortion before the time of amniocentesis for conceptions with more extensive chromosome imbalance. A stepwise logistic regression analysis of 13 299 pregnancies in which both parental ages are known shows that the father's age does not influence these maternal age specific rates, with the possible exception of the 47,XXY syndrome.     

Early prenatal diagnosis of an infratentorial arachnoid cyst: Association with an unbalanced translocation

Arachnoid cysts are an uncommon central nervous system malformation, representing only 1 per cent of all intracranial masses. We report the second-trimester prenatal diagnosis of a posterior fossa arachnoid cyst, associated with an unbalanced X;9 translocation.     

45,X/46,XY chromosome mosaicism detected by midtrimester amniocentesis in amniocyte clones

Amniocyte clones from a mid-trimester pregnancy disclosed 45,X/46,XY sex chromosome mosaicism. Because of the uncertainty concerning the phenotype of the fetus, the parents elected to terminate the pregnancy. Mixed (asymmetrical) gonadal dysgenesis was not found. The fetus appeared to have a normal male uro-genital system. No malformations of any type were detected, although as expected, the fetus did have 45,X/46,XY mosaicism.     

Mosaicism of 46,XX/47,XX,+9/47,XX,+?mar in the same amniotic fluid with apparent loss of one cell line after delivery

A 46,XX; 47,XX,+9; 47,XX, + ?mar karyotype was detected in an amniotic fluid cell culture and confirmed in a subsequent fetal blood sample from a 40-year-old woman. After termination of the pregnancy, none of the 186 mitoses obtained from a second blood sample was trisomic for chromosome 9 (p<0.001). Selection against cells containing trisomy 9 is postulated to explain the disappearance of the lymphocyte clone.     

Cystic hygroma: Prenatal diagnosis and genetic counselling

Six cases of cystic hygromas detected during second trimester ultrasound examination are reported: 4 fetuses (67 per cent) had a 45, X karyotype, 1 fetus had trisomy 18, 1 fetus had a normal karyotype (46,XX) and at autopsy multiple anomalies were observed. In the latter case the family history suggested an autosomal recessive pattern of inheritance. In order to reach a definite diagnosis and give proper genetic counselling when a fetus is found to have cystic hygroma, a fetal karyotype as well as a family and reproductive history should be obtained.     

Prenatal diagnosis and post-mortem study of a fetus with mosaic trisomy 14 due to a dic(14)(p11)

Amniocentesis at 17 weeks' gestation revealed a mosaic karyotype—46,XX/46,XX, — 14,+dic(14)(p11). No abnormalities were detected on ultrasound. Growth and placentation were normal. The fetus was examined after termination of pregnancy and micrognathia and pulmonary hyperlobation were the only abnormalities detected. Several tissues were set up for cytogenetics, including fetal skin, kidney, ovary, and placenta. The diagnosis was confirmed by these studies. The level of mosaicism varied between tissues, with the trisomy 14 cell line highest in amniotic fluid.     

Sustainable supply chains—minerals and sustainable development,going beyond the mine

If the minerals and metals sector is to contribute successfully to sustainable development, it must adopt principles and practices which address the entire life cycle of the materials it creates. This paper examines how the social and environmental sustainability performance of products influences the sustainability agenda of the mining and metals sector. It illustrates how access to markets drives improvements in sustainability. It also considers how the sustainability of metal and non-metal products are using lifecycle approaches and outlines the importance of using appropriate tools for metals.     

家蚕斑纹限性品种SC_1的RAPD差异DNA片段的克隆及其酶切图谱分析

利用RAPD技术对家蚕限性普斑品种SC1的雌雄体分别进行PCR扩增通过120种引物的筛选,得到1个雌体特异的RAPDDNA片段将该片段克隆到pUC19质粒,井进行了限制性内切酶图谱分析.     

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