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Citogenética Molecular: Análisis Microarray de Alta Resolución (cobertura de la prueba, loci, síndromes y sondas)

Citogenética Molecular: Análisis Microarray de Alta Resolución (cobertura de la prueba, loci, síndromes y sondas)

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Published by Andrea F. Puppio
Análisis Microarray de Alta Resolución. Plataforma para análisis cromosómico constitucional. Síndromes de Microdeleción y Duplicación y regiones subteloméricas cubiertas. En un solo ensayo es evaluado el genoma entero para aneuploidias cromosómicas y para deleciones y duplicaciones subteloméricas. Diagnostico de personas con rasgos dismorficos, retraso mental y del desarrollo, desordenes del espectro autista (trastornos generalizados del desarrollo- TGD), convulsiones, sospechas de desbalances genómicos. Determinar puntos de ruptura en rearreglos cromosómicos previamente detectados.
Análisis Microarray de Alta Resolución. Plataforma para análisis cromosómico constitucional. Síndromes de Microdeleción y Duplicación y regiones subteloméricas cubiertas. En un solo ensayo es evaluado el genoma entero para aneuploidias cromosómicas y para deleciones y duplicaciones subteloméricas. Diagnostico de personas con rasgos dismorficos, retraso mental y del desarrollo, desordenes del espectro autista (trastornos generalizados del desarrollo- TGD), convulsiones, sospechas de desbalances genómicos. Determinar puntos de ruptura en rearreglos cromosómicos previamente detectados.

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Categories:Types, Brochures
Published by: Andrea F. Puppio on Mar 23, 2011
Copyright:Attribution Non-commercial

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11/11/2012

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GenomeDx: The Next Generation of Genome-Wide Microarray Analysis
page 1
GenomeDx v.3.0
enables a high-resolution, genome-wide microarray analysis to evaluate for known aswell as novel genomic deletion and duplication syndromes. The custom-designed oligonucleotidemicroarray utilizes 105,000 probes that are placed across the non-repetitive sequence of the genomeand offers increased probe density and technical sensitivity. This table provides brief summaries ofclinically relevant loci for which genomic loss or gain has been associated with a disease phenotype.
The loci are grouped and color-coded into 4 major categories, based on the clinical utility of these tests:
Well-established microdeletion/duplication syndromes with a high detection rate.Microdeletion/duplication syndromes with a lower detection rate.Newly recognized microdeletion/duplication syndromes.Single gene disorders only rarely caused by partial or complete gene deletion/duplication.These disorders are predominantly caused by mutations detectable by DNA sequencing.Autism susceptibility loci
Chromosomal and Single Gene Disorders Covered by the GenomeDx 105K array
DISORDERLOCUSGENEOMIM
278706elpitluM63p1emordnysnoiteled63p1 000472elpitluM1.12q1)RAT(noiteledorcim12q1 1q41-1q42 deletion1q41-1q42Multiple2p15 microdeletion2p15Multiple8418062BTAS33q2-2.23q2noiteledorcim33q2-2.23q2 2q37 subtelomeric deletion2q37Multiple60043016p13.2A2BP16q23.3AHI112p13.33CACNA1C7q31.32CADPS23p26.3CNTN47q35CNTNAP211q13.4DHCR71q42.2DISC17q36.3EN215q12GABRB36q16.3GRIK217q21.32ITGB3Xq28MECP27q31.2METXq13.1NLGN3Xp22.33NLGN4X7q22.1NPTX22p16.NRXN113q21.32PCDH910q23.3PTEN7q22.1RELN22q13.33SHANK32q31.SLC25A122q24.2SLC4A1017q11.2SLC6A49q34.13TSC116p13.3TSC2/PKD115q11.2UBE3A
LOCUSGENELOCUSGENE
Autism Susceptibility Loci Covered by the GenomeDx 105K array
All reported intrachromosomal gains or losses linked to autism susceptibility(see microdeletions/duplications on page 1)
click on OMIM number for more information about that disorder

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