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Consensus Statement :
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Miller, David T.
(author)
Consensus Statement : Chromosomal Microarray Is a First-Tier Clinical Diagnostic Test for Individuals with Developmental Disabilities or Congenital Anomalies
- Article/chapterEnglish2010
Publisher, publication year, extent ...
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Elsevier BV,2010
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printrdacarrier
Numbers
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LIBRIS-ID:oai:DiVA.org:uu-136427
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https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-136427URI
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https://doi.org/10.1016/j.ajhg.2010.04.006DOI
Supplementary language notes
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Language:English
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Summary in:English
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Subject category:ref swepub-contenttype
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Subject category:art swepub-publicationtype
Notes
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Chromosomal microarray (CMA) is increasingly utilized for genetic testing of individuals with unexplained developmental delay/intellectual disability (DD/ID), autism spectrum disorders (ASD), or multiple congenital anomalies (MCA). Performing CMA and G-banded karyotyping on every patient substantially increases the total cost of genetic testing. The International Standard Cytogenomic Array (ISCA) Consortium held two international workshops and conducted a literature review of 33 studies, including 21,698 patients tested by CMA. We provide an evidence-based summary of clinical cytogenetic testing comparing CMA to G-banded karyotyping with respect to technical advantages and limitations, diagnostic yield for various types of chromosomal aberrations, and issues that affect test interpretation. CMA offers a much higher diagnostic yield (15%-20%) for genetic testing of individuals with unexplained DD/ID, ASD, or MCA than a G-banded karyotype (similar to 3%, excluding Down syndrome and other recognizable chromosomal syndromes), primarily because of its higher sensitivity for submicroscopic deletions and duplications. Truly balanced rearrangements and low-level mosaicism are generally not detectable by arrays, but these are relatively infrequent causes of abnormal phenotypes in this population (<1%). Available evidence strongly supports the use of CMA in place of G-banded karyotyping as the first-tier cytogenetic diagnostic test for patients with DD/ID, ASD, or MCA. G-banded karyotype analysis should be reserved for patients with obvious chromosomal syndromes (e.g., Down syndrome), a family history of chromosomal rearrangement, or a history of multiple miscarriages.
Subject headings and genre
Added entries (persons, corporate bodies, meetings, titles ...)
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Adam, Margaret P.
(author)
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Aradhya, Swaroop
(author)
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Biesecker, Leslie G.
(author)
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Brothman, Arthur R.
(author)
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Carter, Nigel P.
(author)
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Church, Deanna M.
(author)
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Crolla, John A.
(author)
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Eichler, Evan E.
(author)
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Epstein, Charles J.
(author)
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Faucett, W. Andrew
(author)
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Feuk, LarsUppsala universitet,Institutionen för genetik och patologi(Swepub:uu)larsfeuk
(author)
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Friedman, Jan M.
(author)
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Hamosh, Ada
(author)
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Jackson, Laird
(author)
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Kaminsky, Erin B.
(author)
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Kok, Klaas
(author)
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Krantz, Ian D.
(author)
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Kuhn, Robert M.
(author)
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Lee, Charles
(author)
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Ostell, James M.
(author)
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Rosenberg, Carla
(author)
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Scherer, Stephen W.
(author)
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Spinner, Nancy B.
(author)
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Stavropoulos, Dimitri J.
(author)
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Tepperberg, James H.
(author)
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Thorland, Erik C.
(author)
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Vermeesch, Joris R.
(author)
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Waggoner, Darrel J.
(author)
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Watson, Michael S.
(author)
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Martin, Christa Lese
(author)
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Ledbetter, David H.
(author)
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Uppsala universitetInstitutionen för genetik och patologi
(creator_code:org_t)
Related titles
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In:American Journal of Human Genetics: Elsevier BV86:5, s. 749-7640002-92971537-6605
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Miller, David T.
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Adam, Margaret P ...
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Aradhya, Swaroop
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Biesecker, Lesli ...
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Brothman, Arthur ...
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Carter, Nigel P.
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Church, Deanna M ...
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Crolla, John A.
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Eichler, Evan E.
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Faucett, W. Andr ...
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Feuk, Lars
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Friedman, Jan M.
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Hamosh, Ada
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Jackson, Laird
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Kaminsky, Erin B ...
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Kok, Klaas
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Krantz, Ian D.
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Kuhn, Robert M.
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Lee, Charles
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Ostell, James M.
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Rosenberg, Carla
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Spinner, Nancy B ...
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