Molecular genetic prenatal diagnosis for a case of autosomal recessive spondylocostal dysostosis

Autosomal recessive spondylocostal dysostosis type 1 (ARSCD1) is a member of the heterogeneous group of disorders termed the spondylocostal dysostoses that are characterized by multiple vertebral segmentation defects and rib anomalies. In these patients, the entire vertebral column is malformed and is replaced by multiple hemivertebrae giving rise to truncal shortening, abdominal protrusion and non-progressive spinal curvature. Genetic studies have shown that some cases of ARSCD are due to mutations in the somitogenesis gene, Delta-like 3 (DLL3), that encodes a ligand for the Notch signalling pathway—ARSCD type 1. To date, 17 different DLL3 gene mutations have been reported. A consanguineous family of Turkish origin with ARSCD type 1 due to a homozygous DLL3 mutation requested genetic prenatal diagnosis. Using DNA from a chorionic villus sample, both linkage analysis of the DLL3/19q region and direct sequencing for the familial mutation demonstrated that the unborn fetus was an unaffected carrier. This is the first case of molecular genetic prenatal diagnosis in any form of SCD. Copyright © 2003 John Wiley & Sons, Ltd.     

Tests appropriate for the prenatal diagnosis of ataxia telangiectasia

A fetus ‘at-risk’ for ataxia telangiectasia (A-T) was monitored prenatally by several approaches which, in concert, might yield information of diagnostic value: measurement of amniotic fluid AFP levels; the clastogenic potential of ‘at-risk’ amniotic fluid; and cytogenic evaluation of fetal amniocytes. All three parameters proved negative and normality, based primarily on the chromosomal study of fetal cells, was therefore presumed. This conclusion was confirmed shortly after birth by normal serum AFP levels and the lack of increased spontaneous or clastogen-induced chromosome breakage in the infant's cells. Based on previous observations from four normal and one affected fetus, the coordination of these techniques provides adequate methodology for the antenatal assessment of the phenotypes associated with A-T.     

非线性理论在开采沉陷中的应用

简要介绍了近年来把非线性理论应用于矿山开采沉陷领域的一些研究成果,主要包括两大部分：（１）神经网络理论在开采沉陷中的应用;（２）离散单元法在开采沉陷中的应用     

GIS支持下矿区岩溶陷落柱的综合探测技术

岩溶陷落柱是影响矿山安全生产的重要地质灾害之一,在采掘笔者提出的工程设计之前,预先探测陷落柱的空间位置和形态,可避免经济损失并保证煤矿高效安全生产。为此,论述了一种在地面综合探测陷落柱的技术,即在地理信息系统（Ｇｅｏｇｒａｐｈｉｃ Ｉｎｆｏｒｍ ａｔｉｏｎ Ｓｙｓｔｅｍ , 简称ＧＩＳ）支持下,对遥感图像、地质采矿资料和实地调查资料进行多因素复合分析,圈定陷落柱的可能分布区,进而实施物理勘探,确定陷落柱的具体分布参数。实践表明,这是一种行之有效的技术方法     

Prenatal sonographic diagnosis of meconium peritonitis

The ultrasonographer may be the first physician to suggest the presence of a fetal abnormality. A case of prenatally-detected meconium peritonitis is presented, with sonographic and radio-graphic correlation.     

Swedish survey on extra structurally abnormal chromosomes in 39 105 consecutive prenatal diagnoses: Prevalence and characterization by fluorescence in situ hybridization

During 7 years (1985–1992), 39 105 consecutive prenatal diagnoses (34 908 amniocenteses and 4197 chorionic villus samples) were made at the five largest clinical genetic laboratories in Sweden. Thirty-one cases of extra structurally abnormal chromosomes (ESACs) were found, giving a total prevalence of 0·8 per 1000. Twelve ESACs were inherited, 14 were de novo and in five the parental origin was unknown. This gives an estimated prevalence of 0·3–0·4 per 1000 for familial and 0·4–0·5 per 1000 for de novo ESACs. Retrospectively, the ESACs were characterized by fluorescence in situ hybridization (FISH). In nine cases, no material was available for this analysis. In 21 of the remaining 22 cases, the chromosomal origin could be identified by FISH. Seventeen of these (81 per cent) were derived from the acrocentric chromosomes, of which 13 originated from chromosome 15 (62 per cent). The most common ESAC was the inv dup(15) (57 per cent). Two cases were derived from chromosome 22, one from chromosome 14, and one from either chromosome 13 or chromosome 21. The four remaining cases consisted to two i(18p)s and two small ring chromosomes derived from chromosomes 4 and 19, respectively.     

Possibility of prenatal diagnosis of hereditary triose phosphate isomerase deficiency

Prenatal diagnosis has been performed on umbilical cord blood of an 18 weeks fetus of heterozygous triosephosphate isomerase (TPI) deficient parents. After excluding maternal blood contamination, TPI activity was measured and found to be 60 per cent of the normal mean whereas the value of glucose-6-phosphate dehydrogenase activity was in the normal range of fetal blood. In addition, the analysis of the characteristics of fetal TPI, i.e. K_m measurements for glyceraldehyde-3-phosphate, heat stability tests and electrophoretic studies, did not show any evidence of a special form of TPI in fetal blood. These results were consistent with the heterozygous state and were confirmed at birth.     

Rare chromosome 20 variants encountered during prenatal diagnosis

A case with an uncommon heteromorphism in the centromeric region of chromosome 20, var (20) (cen, CBG 50), and a family with a pericentric inversion of chromosome 20, inv (20) (p11.23q11.21), are reported, both detected in amniotic fluid cell cultures. It appears that small pericentric inversions of chromosome 20 have a low risk of recombination.     

Prenatal analysis of the insulin receptor gene in a family with leprechaunism

Leprechaunism is an autosomal recessive disease characterized by intrauterine and postnatal growth restriction, loss of glucose homeostasis, and severe insulin resistance. This disease is caused by a failure of function of the insulin receptor and is lethal early in life. Here we report the prenatal diagnosis of leprechaunism in one consanguineous family, Atl-1, in which two homozygous-affected siblings died with leprechaunism. The mutation in their insulin receptor impaired insulin binding and altered receptor signalling. Prenatal diagnosis could not be accomplished using insulin binding to cultured amniocytes, but was possible using mutational analysis of the insulin receptor gene in DNA from amniotic cells.