Consensus Statement: Chromosomal Microarray Is a First-Tier Clinical Diagnostic Test for Individuals with Developmental Disabilities or Congenital Anomalies

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Fältnamn	Indikatorer	Metadata
000		04141naa a2200661 4500
001		oai:DiVA.org:uu-136427
003		SwePub
008		101213s2010 \| \|\|\|\|\|\|\|\|\|\|\|000 \|\|eng\|
024	7	a https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-1364272 URI
024	7	a https://doi.org/10.1016/j.ajhg.2010.04.0062 DOI
040		a (SwePub)uu
041		a engb eng
042		9 SwePub
072	7	a ref2 swepub-contenttype
072	7	a art2 swepub-publicationtype
100	1	a Miller, David T.4 aut
245	1 0	a Consensus Statement :b Chromosomal Microarray Is a First-Tier Clinical Diagnostic Test for Individuals with Developmental Disabilities or Congenital Anomalies
264	1	b Elsevier BV,c 2010
338		a print2 rdacarrier
520		a 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.
653		a MEDICINE
653		a MEDICIN
700	1	a Adam, Margaret P.4 aut
700	1	a Aradhya, Swaroop4 aut
700	1	a Biesecker, Leslie G.4 aut
700	1	a Brothman, Arthur R.4 aut
700	1	a Carter, Nigel P.4 aut
700	1	a Church, Deanna M.4 aut
700	1	a Crolla, John A.4 aut
700	1	a Eichler, Evan E.4 aut
700	1	a Epstein, Charles J.4 aut
700	1	a Faucett, W. Andrew4 aut
700	1	a Feuk, Larsu Uppsala universitet,Institutionen för genetik och patologi4 aut0 (Swepub:uu)larsfeuk
700	1	a Friedman, Jan M.4 aut
700	1	a Hamosh, Ada4 aut
700	1	a Jackson, Laird4 aut
700	1	a Kaminsky, Erin B.4 aut
700	1	a Kok, Klaas4 aut
700	1	a Krantz, Ian D.4 aut
700	1	a Kuhn, Robert M.4 aut
700	1	a Lee, Charles4 aut
700	1	a Ostell, James M.4 aut
700	1	a Rosenberg, Carla4 aut
700	1	a Scherer, Stephen W.4 aut
700	1	a Spinner, Nancy B.4 aut
700	1	a Stavropoulos, Dimitri J.4 aut
700	1	a Tepperberg, James H.4 aut
700	1	a Thorland, Erik C.4 aut
700	1	a Vermeesch, Joris R.4 aut
700	1	a Waggoner, Darrel J.4 aut
700	1	a Watson, Michael S.4 aut
700	1	a Martin, Christa Lese4 aut
700	1	a Ledbetter, David H.4 aut
710	2	a Uppsala universitetb Institutionen för genetik och patologi4 org
773	0	t American Journal of Human Geneticsd : Elsevier BVg 86:5, s. 749-764q 86:5<749-764x 0002-9297x 1537-6605
856	4	u https://doi.org/10.1016/j.ajhg.2010.04.006
856	4 8	u https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-136427
856	4 8	u https://doi.org/10.1016/j.ajhg.2010.04.006

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