No abstract

In this paper we describe the use of five-colour fluorescence in situ hybridization for prenatal diagnosis of aneuploidy using uncultured amniotic fluid cells. The analysis is based on ratio mixing of dual-labelled probes and digital imaging for the detection and visualization of five different probes specific for the five target chromosomes, 13, 18, 21, X, and Y. A retrospective blind analysis of 30 coded uncultured amniotic fluid samples correctly detected fetal sex and five trisomy 21 cases. Multicolour fluorescence in situ hybridization used in this way allows rapid and simultaneous detection of the most frequent aneuploidies.

Successful analysis of a large number of prenatal samples proves QF-PCR to be an efficient adjunct in routine prenatal diagnosis.

A prospective study was undertaken to evaluate the use of fluorescence in situ hybridization (FISH) for the detection of trisomy 21 in interphase nuclei of uncultured amniotic fluid cells. Five hundred cases were analysed in situ and classified as normal or abnormal; the results were subsequently checked against the cytogenetic findings. Four hundred and ninety-three were correctly identified as normal with an 86.6 per cent average frequency of scored nuclei exhibiting two signals; six cases were correctly identified as trisomic for chromosome 21 with 81.7 per cent of scored nuclei exhibiting three signals; and one abnormal case involving an unbalanced chromosome 21:21 translocation was falsely scored as normal due to poor hybridization/detection efficiency. The method has been substantially improved and simplified so that it is suitable for the rapid detection of trisomy 21. As aneuploidy detection in interphase does not identify structural chromosome aberrations, it is not a substitute for fetal chromosome analysis.

No abstract

The 1q21 to 25 region of human chromosome 1 contains genes which encode proteins with immune- and inflammation-associated functions. These include the pentraxin genes, for C-reactive protein (CRP), serum amyloid P (SAP) protein (APCS),a nd a CRP pseudogene (CRPP1). The region of chromosome 1 containing this cluster is syntenic with distal mouse chromosome 1. We constructed an approximately 1.4 megabase yeast artificial chromosome (YAC) contig with the pentraxin genes at its core. This four-YAC contig includes other genes with immune functions including the FCER1A gene, which encodes the alpha-subunit of the IgE high-affinity Fc receptor and the IFI-16 gene, an interferon-gamma-induced gene. In addition, it contains the histone H3F2 and H4F2 genes and the gene for erythroid alpha-spectrin (SPTA1). The gene order is cen.-SPTA1-H4F2-H3F2-IFI-16-CRP-CRPP1-APCS -FCER1A- tel. The contig thus consists of a cluster of genes whose products either have immunological importance, bind DNA, or both.

The 1q21 to 25 region of human chromosome 1 contains genes which encode proteins with immune- and inflammation-associated functions. These include the pentraxin genes, for C-reactive protein (CRP), serum amyloid P (SAP) protein (APCS),a nd a CRP pseudogene (CRPP1). The region of chromosome 1 containing this cluster is syntenic with distal mouse chromosome 1. We constructed an approximately 1.4 megabase yeast artificial chromosome (YAC) contig with the pentraxin genes at its core. This four-YAC contig includes other genes with immune functions including the FCER1A gene, which encodes the alpha-subunit of the IgE high-affinity Fc receptor and the IFI-16 gene, an interferon-gamma-induced gene. In addition, it contains the histone H3F2 and H4F2 genes and the gene for erythroid alpha-spectrin (SPTA1). The gene order is cen.-SPTA1-H4F2-H3F2-IFI-16-CRP-CRPP1-APCS -FCER1A- tel. The contig thus consists of a cluster of genes whose products either have immunological importance, bind DNA, or both.

Chronic myeloid leukemia (CML) is a BCR-ABL1-positive myeloproliferative neoplasm (MPN), which is usually diagnosed in chronic phase (CP-CML) and is considered curable in the era of tyrosine kinase inhibitors (TKIs). Leukostasis is an urgent complication more often of acute and less often of chronic leukemias. Regarding CML, leukostatic symptoms are uncommon in CP and in newly diagnosed patients, while being more often in advanced disease stages (accelerated or blastic phase). Leukostasis in CML is mostly presented with neurologic or respiratory symptoms. We present here a case of newly diagnosed CML in CP, which initially presented with leukostasis-related fatal cardiopulmonary arrest in a 59-year-old woman.