Advances in molecular cytogenetics for the evaluation of mental retardation
Identifieur interne : 000603 ( Main/Exploration ); précédent : 000602; suivant : 000604Advances in molecular cytogenetics for the evaluation of mental retardation
Auteurs : Jie Xu [Canada] ; Zhong Chen [Canada]Source :
- American Journal of Medical Genetics Part C: Seminars in Medical Genetics [ 1552-4868 ] ; 2003-02-15.
English descriptors
- Teeft :
- Aberration, Abnormality, American journal, Anomaly, Breakpoints, Buccal, Buccal mucosal cells, Chromosomal, Chromosomal abnormalities, Chromosome, Chromosome aberrations, Chromosome abnormalities, Chromosome ends, Chromosome microdissection, Chromosome painting, Clin, Clinical cytogenetics, Clinical indications, Comparative genomic hybridization, Cytogenetic, Cytogenetics, Deletion, Detection sensitivity, Developmental delay, Direct buccal smear preparations, Dysmorphic features, Family history, Fish analysis, Genet, Genetics, Genome, Genomic, Guan, Hybridization, Idiopathic, Interphase, Interphase fish, Kallioniemi, Karyotype, Karyotyping, Kirchhoff, Koch, Marker, Medical genetics, Mental retardation, Metaphase, Microdissection, Molecular cytogenetics, Multicolor, Multicolor karyotyping, Normal karyotype, Other methods, Prenatal, Prins, Rearrangement, Repetitive sequences, Retardation, Retarded children, Retarded patients, Screening, Semin, Shaffer, Subtelomere, Subtelomeric, Subtelomeric rearrangements, Syndrome, Telomere, Telomere fish, Telomere fish screening, Translocation, Unbalanced translocations, Uorescence.
Abstract
Recent years have witnessed rapid advances in molecular cytogenetics and its impact in studying mental retardation (MR). We review new molecular cytogenetic methods, including interphase fluorescence in situ hyrbridization (FISH), comparative genomic hybridization (CGH), multicolor karyotyping, telomere FISH, primed in situ labeling (PRINS), genotyping , microdissection, and microarray for the evaluation of MR. These new methods are very useful in two major aspects: further characterization of chromosome abnormalities as detected with routine banding analysis, including additions, duplications, deletions, translocations, markers, or complex aberrations; and screening for “hidden” chromosome aberrations in patients with an apparently normal karyotype. These new methods have great diagnostic potential in prenatal, postnatal, and preimplantational settings. Although powerful, at this point, they are primarily research tools in nature. It is essential that these new methods be used in conjunction with standard methods in order to maximize obtainable information for better management of patients with MR. © 2003 Wiley‐Liss, Inc.
Url:
DOI: 10.1002/ajmg.c.10016
Affiliations:
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type="ISSN">1552-4868</idno><idno type="eISSN">1552-4876</idno><imprint><biblScope unit="vol">117C</biblScope><biblScope unit="issue">1</biblScope><biblScope unit="page" from="15">15</biblScope><biblScope unit="page" to="24">24</biblScope><biblScope unit="page-count">10</biblScope><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>New York</pubPlace><date type="published" when="2003-02-15">2003-02-15</date></imprint><idno type="ISSN">1552-4868</idno></series></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">1552-4868</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="Teeft" xml:lang="en"><term>Aberration</term><term>Abnormality</term><term>American journal</term><term>Anomaly</term><term>Breakpoints</term><term>Buccal</term><term>Buccal mucosal cells</term><term>Chromosomal</term><term>Chromosomal abnormalities</term><term>Chromosome</term><term>Chromosome aberrations</term><term>Chromosome abnormalities</term><term>Chromosome ends</term><term>Chromosome microdissection</term><term>Chromosome painting</term><term>Clin</term><term>Clinical cytogenetics</term><term>Clinical indications</term><term>Comparative genomic hybridization</term><term>Cytogenetic</term><term>Cytogenetics</term><term>Deletion</term><term>Detection sensitivity</term><term>Developmental delay</term><term>Direct buccal smear preparations</term><term>Dysmorphic features</term><term>Family history</term><term>Fish analysis</term><term>Genet</term><term>Genetics</term><term>Genome</term><term>Genomic</term><term>Guan</term><term>Hybridization</term><term>Idiopathic</term><term>Interphase</term><term>Interphase fish</term><term>Kallioniemi</term><term>Karyotype</term><term>Karyotyping</term><term>Kirchhoff</term><term>Koch</term><term>Marker</term><term>Medical genetics</term><term>Mental retardation</term><term>Metaphase</term><term>Microdissection</term><term>Molecular cytogenetics</term><term>Multicolor</term><term>Multicolor karyotyping</term><term>Normal karyotype</term><term>Other methods</term><term>Prenatal</term><term>Prins</term><term>Rearrangement</term><term>Repetitive sequences</term><term>Retardation</term><term>Retarded children</term><term>Retarded patients</term><term>Screening</term><term>Semin</term><term>Shaffer</term><term>Subtelomere</term><term>Subtelomeric</term><term>Subtelomeric rearrangements</term><term>Syndrome</term><term>Telomere</term><term>Telomere fish</term><term>Telomere fish screening</term><term>Translocation</term><term>Unbalanced translocations</term><term>Uorescence</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Recent years have witnessed rapid advances in molecular cytogenetics and its impact in studying mental retardation (MR). We review new molecular cytogenetic methods, including interphase fluorescence in situ hyrbridization (FISH), comparative genomic hybridization (CGH), multicolor karyotyping, telomere FISH, primed in situ labeling (PRINS), genotyping , microdissection, and microarray for the evaluation of MR. These new methods are very useful in two major aspects: further characterization of chromosome abnormalities as detected with routine banding analysis, including additions, duplications, deletions, translocations, markers, or complex aberrations; and screening for “hidden” chromosome aberrations in patients with an apparently normal karyotype. These new methods have great diagnostic potential in prenatal, postnatal, and preimplantational settings. Although powerful, at this point, they are primarily research tools in nature. It is essential that these new methods be used in conjunction with standard methods in order to maximize obtainable information for better management of patients with MR. © 2003 Wiley‐Liss, Inc.</div></front></TEI><affiliations><list><country><li>Canada</li></country></list><tree><country name="Canada"><noRegion><name sortKey="Xu, Jie" sort="Xu, Jie" uniqKey="Xu J" first="Jie" last="Xu">Jie Xu</name></noRegion><name sortKey="Chen, Zhong" sort="Chen, Zhong" uniqKey="Chen Z" first="Zhong" last="Chen">Zhong Chen</name><name sortKey="Xu, Jie" sort="Xu, Jie" uniqKey="Xu J" first="Jie" last="Xu">Jie Xu</name><name sortKey="Xu, Jie" sort="Xu, Jie" uniqKey="Xu J" first="Jie" last="Xu">Jie Xu</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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