BIOMAT Database Logo BIOMAT Database Logo

Analysis of chromosome 21 copy number in uncultured amniocytes by fluorescence in situ hybridization using a cosmid contig. 1992

Y L Zheng, and M A Ferguson-Smith, and J P Warner, and M E Ferguson-Smith, and C A Sargent, and N P Carter
Department of Pathology, University of Cambridge, U.K.

A comparison of the use of chromosome 21-specific libraries, DOP-PCR 21 paints, yeast artificial chromosome (YAC) clones, single cosmids, and a 21q cosmid contig as probes for the detection of the copy number of chromosome 21 in interphase cells by fluorescence in situ hybridization shows that the cosmid contig is a satisfactory probe for interphase analysis of chromosome 21. The contig cCMP21.a, which is 55 kb in length, is highly chromosome 21-specific and produces intense, compact signals in a high proportion of interphase cells. A retrospective blind analysis of coded uncultured amniotic fluid samples correctly detected four trisomy 21 cases out of 49 samples.

UI MeSH Term Description Entries
D008856 Microscopy, Fluorescence Microscopy of specimens stained with fluorescent dye (usually fluorescein isothiocyanate) or of naturally fluorescent materials, which emit light when exposed to ultraviolet or blue light. Immunofluorescence microscopy utilizes antibodies that are labeled with fluorescent dye. Fluorescence Microscopy,Immunofluorescence Microscopy,Microscopy, Immunofluorescence,Fluorescence Microscopies,Immunofluorescence Microscopies,Microscopies, Fluorescence,Microscopies, Immunofluorescence
D011247 Pregnancy The status during which female mammals carry their developing young (EMBRYOS or FETUSES) in utero before birth, beginning from FERTILIZATION to BIRTH. Gestation,Pregnancies
D002891 Chromosomes, Human, Pair 21 A specific pair of GROUP G CHROMOSOMES of the human chromosome classification. Chromosome 21
D003360 Cosmids Plasmids containing at least one cos (cohesive-end site) of PHAGE LAMBDA. They are used as cloning vehicles. Cosmid
D004314 Down Syndrome A chromosome disorder associated either with an extra CHROMOSOME 21 or an effective TRISOMY for chromosome 21. Clinical manifestations include HYPOTONIA, short stature, BRACHYCEPHALY, upslanting palpebral fissures, epicanthus, Brushfield spots on the iris, protruding tongue, small ears, short, broad hands, fifth finger clinodactyly, single transverse palmar crease, and moderate to severe INTELLECTUAL DISABILITY. Cardiac and gastrointestinal malformations, a marked increase in the incidence of LEUKEMIA, and the early onset of ALZHEIMER DISEASE are also associated with this condition. Pathologic features include the development of NEUROFIBRILLARY TANGLES in neurons and the deposition of AMYLOID BETA-PROTEIN, similar to the pathology of ALZHEIMER DISEASE. (Menkes, Textbook of Child Neurology, 5th ed, p213) Mongolism,Trisomy 21,47,XX,+21,47,XY,+21,Down Syndrome, Partial Trisomy 21,Down's Syndrome,Partial Trisomy 21 Down Syndrome,Trisomy 21, Meiotic Nondisjunction,Trisomy 21, Mitotic Nondisjunction,Trisomy G,Downs Syndrome,Syndrome, Down,Syndrome, Down's
D005260 Female Females
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000649 Amniocentesis Percutaneous transabdominal puncture of the uterus during pregnancy to obtain amniotic fluid. It is commonly used for fetal karyotype determination in order to diagnose abnormal fetal conditions. Amniocenteses
D012189 Retrospective Studies Studies used to test etiologic hypotheses in which inferences about an exposure to putative causal factors are derived from data relating to characteristics of persons under study or to events or experiences in their past. The essential feature is that some of the persons under study have the disease or outcome of interest and their characteristics are compared with those of unaffected persons. Retrospective Study,Studies, Retrospective,Study, Retrospective
D015183 Restriction Mapping Use of restriction endonucleases to analyze and generate a physical map of genomes, genes, or other segments of DNA. Endonuclease Mapping, Restriction,Enzyme Mapping, Restriction,Site Mapping, Restriction,Analysis, Restriction Enzyme,Enzyme Analysis, Restriction,Restriction Enzyme Analysis,Analyses, Restriction Enzyme,Endonuclease Mappings, Restriction,Enzyme Analyses, Restriction,Enzyme Mappings, Restriction,Mapping, Restriction,Mapping, Restriction Endonuclease,Mapping, Restriction Enzyme,Mapping, Restriction Site,Mappings, Restriction,Mappings, Restriction Endonuclease,Mappings, Restriction Enzyme,Mappings, Restriction Site,Restriction Endonuclease Mapping,Restriction Endonuclease Mappings,Restriction Enzyme Analyses,Restriction Enzyme Mapping,Restriction Enzyme Mappings,Restriction Mappings,Restriction Site Mapping,Restriction Site Mappings,Site Mappings, Restriction

Related Publications

Y L Zheng, and M A Ferguson-Smith, and J P Warner, and M E Ferguson-Smith, and C A Sargent, and N P Carter
Fluorescence in situ hybridization with a chromosome 21-specific cosmid contig: 1-day detection of trisomy 21 in uncultured mesenchymal chorionic villus cells.
February 1994, Prenatal diagnosis,
Y L Zheng, and M A Ferguson-Smith, and J P Warner, and M E Ferguson-Smith, and C A Sargent, and N P Carter
Rapid detection of chromosome aneuploidies in uncultured amniocytes by using fluorescence in situ hybridization (FISH).
July 1992, American journal of human genetics,
Y L Zheng, and M A Ferguson-Smith, and J P Warner, and M E Ferguson-Smith, and C A Sargent, and N P Carter
Prenatal detection of trisomy 21 in uncultured amniocytes by fluorescence in situ hybridization: a prospective study.
November 1994, Prenatal diagnosis,
Y L Zheng, and M A Ferguson-Smith, and J P Warner, and M E Ferguson-Smith, and C A Sargent, and N P Carter
An improved method for the detection of trisomy 21 in uncultured amniocytes by fluorescence in situ hybridization.
September 1994, Annals of the New York Academy of Sciences,
Y L Zheng, and M A Ferguson-Smith, and J P Warner, and M E Ferguson-Smith, and C A Sargent, and N P Carter
Prenatal diagnosis of trisomy 21 using interphase fluorescence in situ hybridization of post-replicated cells with site-specific cosmid and cosmid contig probes.
March 1995, Prenatal diagnosis,
Y L Zheng, and M A Ferguson-Smith, and J P Warner, and M E Ferguson-Smith, and C A Sargent, and N P Carter
Chromosome analysis of uncultured amniocytes by comparative genomic hybridization in early amniocentesis.
November 2005, Journal of the Medical Association of Thailand = Chotmaihet thangphaet,
Y L Zheng, and M A Ferguson-Smith, and J P Warner, and M E Ferguson-Smith, and C A Sargent, and N P Carter
Study of chromosome 12 copy number in breast cancer using fluorescence in situ hybridization.
January 1999, Cancer genetics and cytogenetics,
Y L Zheng, and M A Ferguson-Smith, and J P Warner, and M E Ferguson-Smith, and C A Sargent, and N P Carter
Assessment of chromosome 3 copy number in ocular melanoma using fluorescence in situ hybridization.
October 1997, Cancer genetics and cytogenetics,
Y L Zheng, and M A Ferguson-Smith, and J P Warner, and M E Ferguson-Smith, and C A Sargent, and N P Carter
Gene Copy Number Analysis by Fluorescence in Situ Hybridization and Comparative Genomic Hybridization
February 1996, Methods (San Diego, Calif.),
Y L Zheng, and M A Ferguson-Smith, and J P Warner, and M E Ferguson-Smith, and C A Sargent, and N P Carter
Prenatal detection of cri du chat syndrome on uncultured amniocytes using fluorescence in situ hybridization (FISH).
January 1994, Clinical genetics,
Copied contents to your clipboard!