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Literature Review

Literature Review ▪ Improved Resolution of Chromosomal Analysis through Microarray Studies Leads to Identification of Relatively Large Chromosomal Deletion of 16p11.2 Associated with ASDs [Kumar et al. , 2008 ; Marshall et al. , 2008 ; Weiss et al. , 2008 ] Three studies demonstrating 16p11.2 as the second most common chromosomal disorder associated with ASDs (second in frequency to chromosome 15q11–q13 duplications of maternal origin) were published in February 2008, more or less concurrently. Each of these studies provided evidence from one or more samples that a previously described deletion of chromosome 16p11.2 of approximately 500,000 base pairs is found in approximately 0.5–1% of subjects with ASDs and in a much smaller proportion of control subjects. In an Icelandic sample, the deletion was found in approximately 1% of subjects with an ASD, in 0.1% of patients with a language disorder or a non‐ASD psychiatric disorder, and in 0.01% of an unscreened general population sample. An interesting twist to these findings and others emerging in the literature is the identification of families in which more than one individual is affected with an ASD, but only one affected individual has the 16p11.2 deletion. Given that most of these deletions are de http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Autism Research Wiley

Literature Review

Cook, Edwin H.
Autism Research , Volume 1 (2) – Apr 1, 2008
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References (5)

Publisher
Wiley
Copyright
Copyright © 2008, International Society for Autism Research, Wiley Periodicals, Inc.
ISSN
1939-3792
eISSN
1939-3806
DOI
10.1002/aur.16
Publisher site
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Abstract

▪ Improved Resolution of Chromosomal Analysis through Microarray Studies Leads to Identification of Relatively Large Chromosomal Deletion of 16p11.2 Associated with ASDs [Kumar et al. , 2008 ; Marshall et al. , 2008 ; Weiss et al. , 2008 ] Three studies demonstrating 16p11.2 as the second most common chromosomal disorder associated with ASDs (second in frequency to chromosome 15q11–q13 duplications of maternal origin) were published in February 2008, more or less concurrently. Each of these studies provided evidence from one or more samples that a previously described deletion of chromosome 16p11.2 of approximately 500,000 base pairs is found in approximately 0.5–1% of subjects with ASDs and in a much smaller proportion of control subjects. In an Icelandic sample, the deletion was found in approximately 1% of subjects with an ASD, in 0.1% of patients with a language disorder or a non‐ASD psychiatric disorder, and in 0.01% of an unscreened general population sample. An interesting twist to these findings and others emerging in the literature is the identification of families in which more than one individual is affected with an ASD, but only one affected individual has the 16p11.2 deletion. Given that most of these deletions are de

Journal

Autism Research – Wiley

Published: Apr 1, 2008

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