Identification of abnormal chromosomal complement in formalin-fixed,paraffin-embedded placental tissue

The objective of this project was to assess the efficacy of fluorescence in situ hybridization (FISH) with chromosome-specific DNA probes to identify chromosome number in formalin-fixed, paraffin-embedded placental specimens. Using this approach, 75 per cent of the karyotypes in 20 formalin-fixed placental samples (comprising aneuploids, triploids, and normals) were correctly identified. As this technology improves, the ability to obtain information regarding chromosomal abnormalities in formalin-fixed, paraffin-embedded placental tissue should improve as well. This technology can potentially provide important cytogenetic information even when fresh tissue is not available for standard karyotypic analysis.     

Cytogenetic abnormalities among perinatal deaths demonstrating a single umbilical artery

The presence of a single umbilical artery is associated with fetal congenital malformations and cytogenetic abnormalities. The incidence of chromosomal abnormalities in perinatal deaths complicated by a single umbilical artery is unknown. We studied the proportion of cytogenetic abnormalities associated with a single umbilical artery among perinatal deaths undergoing autopsy. Of 1078 autopsies, 42 (3·9 per cent) were identified with a single umbilical artery. Chromosome analysis was attempted in 21 of the 42 cases (50 per cent). There were 16 successful chromosome analyses, of which three (18·75 per cent) were abnormal. All the chromosomally abnormal fetuses had major congenital malformations. These data suggest that in a perinatal death, the presence of a single umbilical artery does not clinically alter the a priori risk of cytogenetic abnormalities.     

Normal karyotype in cultured chorionic villus cells,but mosaicism in amniotic and fetal cells

A case with a normal male karyotype in cultured chorionic villus cells, but 46,XY/45,X/ 46,X,i(Yq) mosaicism in amniotic and fetal tissue is reported. The fetus was a phenotypic male. Pathological examination revealed discrete features, which might indicate a syndrome, and histological examination showed large, bright cells in the tubules of the testes. Possible explanations for discordance between the karyotype of embryonic and extraembryonic tissue are discussed.     

游蛇科4种的核型比较

以骨髓细胞直接制备染色体标本，分析了游蛇属（Ｎａｏｔｒｉｘ）３种和链蛇属（Ｄｉｎｏｄｏｎ）１种蛇的核型．草游蛇（Ｎ．ｓｔｏｌａｔａ）２ｎ＝３６，１８（１５Ｍ＋１ＳＴ＋２Ｔ）·１８ｍ（♀）．渔游蛇（Ｎ．Ｐｉｓｃａｔｏｒ）２ｎ＝４０，１６（１０Ｍ＋１ＳＭ＋３ＳＴ＋２Ｔ）·２４ｍ（♀）．乌游蛇（Ｎ．ｐ．ｐｅｒｃａｒｉｎａｔａ）２ｎ＝４０，１８（８Ｍ十２ＳＭ＋８Ｔ）·２２ｍ（♂）．赤链蛇（Ｄ．ｒｕｆｏｚｏｎａｔｕｍ）２ｎ＝４６，２０（１Ｍ＋３ＳＭ＋１６Ｔ）·２６ｍ（♀）．草游蛇和渔游蛇的Ｎｏｓ，赤链蛇的Ｎｏ３为ＺＺ／ＺＷ型性染色体．草游蛇Ｚ染色体为Ｍ型，Ｗ染色体为ＳＴ型；渔游蛇Ｚ为ＳＭ型，Ｗ也是ＳＴ型；赤链蛇Ｚ为Ｍ型，Ｗ为ＳＭ型．三者Ｚ均略大于Ｗ．草游蛇和渔游蛇Ｎｏ４长臂末端有时可见随体．对游蛇属、链蛇属以及游蛇亚科（Ｃｏｌｕｂｒｉｎａｅ）已知各属种的核型进行了比较和讨论．     

安徽沿江地区4种蛇的染色体组型、C带和Ag-NORs研究

本文报道游蛇亚科４种蛇的核型、Ｃ带和ＡｇＮＯＲｓ,结果：黄链蛇２ｎ＝４６．虎斑游蛇２ｎ＝４０,第４号染色体（Ｎｏ．４）有随体．鸟梢蛇和紫灰锦蛇２ｎ＝３６,鸟梢蛇的Ｎｏ．５短臂近着丝粒区有一次缢痕．虎斑游蛇Ｎｏ．５为性染色体,其余３种的性染色体为Ｎｏ．４．这４种蛇均为ＡＦ＝５０;Ｃ带型的种属性特征明显,其中紫灰锦蛇的端粒型Ｃ带特别发育,其余三种以着丝粒Ｃ带较发达．黄链蛇、虎斑游蛇和紫灰锦蛇的Ｗ染色体Ｃ带正染呈现整条异染色质化;银染结果４种蛇均只显示一对ＮＯＲｓ,但其分布不同,其中虎斑游蛇ＮＯＲｓ呈异态现象．文章讨论了核型的演化和次缢痕、ＮＯＲｓ及Ｃ带的关系     

Specific Karyological Features of Siberian Stone Pine (Pinus sibirica Du Tour) in Western Siberian Bogs

The results of a karyological study on Siberian stone pines growing in the bog demonstrated differences from the populations of this species studied earlier with respect to sizes of chromosomes and location of secondary constrictions. The number of nucleolar organizer regions in the chromosomes of Siberian stone pine trees growing in the bog was larger than in other populations. A wide spectrum of chromosome aberrations was revealed, which had not been observed in this species before. These were genome and chromosome aberrations of various types, as well as structural aberrations accompanied by changes in the number of chromosomes. It is assumed that the aberrations in the karyotype of Siberian stone pine resulted from stressful conditions.     

Tertiary centre referral of small-for-gestational age pregnancies: A 10-year retrospective analysis

Between 1981 and 1991, 461 pregnant women between 15 and 40 weeks of gestation (mean 30 weeks) with completed follow-up were referred to our centre for prenatal diagnosis because of a small-for-gestational age (SGA) fetus or combined SGA and structural abnormality. The referral diagnosis was based either on biparietal diameter measurements or on measurement of the upper-abdominal circumference. SGA in our centre was defined as a fetal upper-abdominal circumference below the tenth centile. SGA was confirmed by ultrasound in 75 per cent of the fetuses, whilst combined SGA and fetal structural abnormality was substantiated in only 16 per cent of the fetuses. However, in our centre structural abnormality was detected in 34 fetuses who were referred because of SGA alone. Nearly half of the structurally normal SGA fetuses displayed a normal head-to-abdomen (H/A), ratio, whereas an increased H/A ratio was found in 13/15 fetuses with an abnormal karyotype. An abnormal karyotype was present in 20 fetuses, which is 7 per cent of the total SGA population. Nearly 50 per cent represented triploidy associated with oligohydramnios. SGA was confirmed by a birth weight below the tenth centile in 89 per cent, below the fifth centile in 77 per cent, and below the 2·3rd centile in 55 per cent of infants. Structural abnormality was confirmed in 65 per cent of infants, whereas in 19 per cent of infants the abnormality was missed or a misclassification was made. Perinatal mortality was 31 per cent for all SGA fetuses, 27 per cent for SGA fetuses without anomalies, and 64 per cent for SGA fetuses with structural abnormality.     

Prediction of an abnormal karyotype in fetuses with omphalocele

The aim of this study was to assess the value of ultrasonographic evaluation in predicting abnormal karyotypes in fetuses with omphalocele. Forty fetuses with antenatally diagnosed omphalocele and available karyotype results were reviewed. Ultrasound evaluation included herniation contents and size, and the detection of other anomalies. Nine of 40 consecutive fetuses had abnormal karyotypes: trisomy 18 (n = 5), trisomy 13 (n = 3), 47,XXX (n = 1). Only 1/25 with an extracorporeal liver versus 8/15 with an intracorporeal liver had abnormal chromosomes [P = 0·0006, RR = 0·14 (0·02 < RR <0·9)]. Small defects (<3 cm) were associated with abnormal karyotypes [P = 0·01, RR = 4·7 (1·4<RR <15·6)]. Finding concurrent malformations was highly associated with chromosomal anomalies [P = 0·00004, RR = 4·4 (2·3 < RR < 8·5)]. The presence of associated malformations, an intracorporeal liver, and a small herniation size are highly suggestive of an associated abnormal karyotype.