Search: onr:"swepub:oai:lup.lub.lu.se:4b6b05e6-6495-4c6b-9b7e-9d49f17e77c2" >
Recurrent 10q22-q23...
-
Balciuniene, Jorune
(author)
Recurrent 10q22-q23 deletions: a genomic disorder on 10q associated with cognitive and behavioral abnormalities
- Article/chapterEnglish2007
Publisher, publication year, extent ...
Numbers
-
LIBRIS-ID:oai:lup.lub.lu.se:4b6b05e6-6495-4c6b-9b7e-9d49f17e77c2
-
https://lup.lub.lu.se/record/663736URI
-
https://doi.org/10.1086/513607DOI
Supplementary language notes
-
Language:English
-
Summary in:English
Part of subdatabase
Classification
-
Subject category:art swepub-publicationtype
-
Subject category:ref swepub-contenttype
Notes
-
Low-copy repeats (LCRs) are genomic features that affect chromosome stability and can produce disease-associated rearrangements. We describe members of three families with deletions in 10q22.3-q23.31, a region harboring a complex set of LCRs, and demonstrate that rearrangements in this region are associated with behavioral and neurodevelopmental abnormalities, including cognitive impairment, autism, hyperactivity, and possibly psychiatric disease. Fine mapping of the deletions in members of all three families by use of a custom 10q oligonucleotide array-based comparative genomic hybridization (NimbleGen) and polymerase chain reaction - based methods demonstrated a different deletion in each family. In one proband, the deletion breakpoints are associated with DNA fragments containing noncontiguous sequences of chromosome 10, whereas, in the other two families, the breakpoints are within paralogous LCRs, removing similar to 7.2 Mb and 32 genes. Our data provide evidence that the 10q22-q23 genomic region harbors one or more genes important for cognitive and behavioral development and that recurrent deletions affecting this interval define a novel genomic disorder.
Subject headings and genre
Added entries (persons, corporate bodies, meetings, titles ...)
-
Feng, Ningping
(author)
-
Iyadurai, Kelly
(author)
-
Hirsch, Betsy
(author)
-
Charnas, Lawrence
(author)
-
Bill, Brent R.
(author)
-
Easterday, Mathew C.
(author)
-
Staaf, JohanLund University,Lunds universitet,Bröstcancer-genetik,Sektion I,Institutionen för kliniska vetenskaper, Lund,Medicinska fakulteten,Breastcancer-genetics,Section I,Department of Clinical Sciences, Lund,Faculty of Medicine(Swepub:lu)onk-jst
(author)
-
Oseth, LeAnn
(author)
-
Czapansky-Beilman, Desiree
(author)
-
Avramopoulos, Dimitri
(author)
-
Thomas, George H.
(author)
-
Borg, ÅkeLund University,Lunds universitet,Bröstcancer-genetik,Sektion I,Institutionen för kliniska vetenskaper, Lund,Medicinska fakulteten,Breastcancer-genetics,Section I,Department of Clinical Sciences, Lund,Faculty of Medicine(Swepub:lu)onk-abo
(author)
-
Valle, David
(author)
-
Schimmenti, Lisa A.
(author)
-
Selleck, Scott B.
(author)
-
Bröstcancer-genetikSektion I
(creator_code:org_t)
Related titles
-
In:American Journal of Human Genetics: Elsevier BV80:5, s. 938-9470002-9297
Internet link
Find in a library
To the university's database
- By the author/editor
-
Balciuniene, Jor ...
-
Feng, Ningping
-
Iyadurai, Kelly
-
Hirsch, Betsy
-
Charnas, Lawrenc ...
-
Bill, Brent R.
-
show more...
-
Easterday, Mathe ...
-
Staaf, Johan
-
Oseth, LeAnn
-
Czapansky-Beilma ...
-
Avramopoulos, Di ...
-
Thomas, George H ...
-
Borg, Åke
-
Valle, David
-
Schimmenti, Lisa ...
-
Selleck, Scott B ...
-
show less...
- About the subject
-
- MEDICAL AND HEALTH SCIENCES
-
MEDICAL AND HEAL ...
-
and Basic Medicine
-
and Medical Genetics
- Articles in the publication
-
American Journal ...
- By the university
-
Lund University