English
 
User Manual Privacy Policy Disclaimer Contact us
  Advanced SearchBrowse

Item

ITEM ACTIONSEXPORT
  Proximal microdeletions and microduplications of 1q21.1 contribute to variable abnormal phenotypes

Rosenfeld, J. A., Traylor, R. N., Schaefer, G. B., McPherson, E. W., Ballif, B. C., Klopocki, E., et al. (2012). Proximal microdeletions and microduplications of 1q21.1 contribute to variable abnormal phenotypes. European journal og human genetics: EJHG; the official journal of the European Society of Human Genetics, 20(7), 754-761. doi:10.1038/ejhg.2012.6.

Item is

Basic

show hide
Item Permalink: http://hdl.handle.net/11858/00-001M-0000-000E-F276-2 Version Permalink: http://hdl.handle.net/11858/00-001M-0000-000E-F277-F
Genre: Journal Article

Files

show Files
hide Files
:
Rosenfeld.pdf (Publisher version), 666KB
Name:
Rosenfeld.pdf
Description:
-
Visibility:
Public
MIME-Type / Checksum:
application/pdf / [MD5]
Technical Metadata:
Copyright Date:
-
Copyright Info:
© 2013 European Society of Human Genetics
License:
-

Locators

show

Creators

show
hide
 Creators:
Rosenfeld, J. A., Author
Traylor, R. N., Author
Schaefer, G. B., Author
McPherson, E. W., Author
Ballif, B. C., Author
Klopocki, E.1, 2, Author              
Mundlos, S.1, 2, Author              
Shaffer, L. G., Author
Aylsworth, A. S., Author
Affiliations:
1Research Group Development & Disease (Head: Stefan Mundlos), Max Planck Institute for Molecular Genetics, Max Planck Society, Berlin, Germany, ou_1433557              
2Institut für Medizinische Genetik und Humangenetik, Charité – Universitätsmedizin Berlin, Berlin, Germany, ou_persistent22              

Content

show
hide
Free keywords: Adolescent Child Child, Preschool Chromosome Deletion Chromosome Duplication Chromosomes, Human, Pair 1/ genetics Comparative Genomic Hybridization DNA Copy Number Variations Female Gene Rearrangement Genetic Testing/methods Humans Infant Infant, Newborn Inheritance Patterns Male Pedigree Phenotype Radius/abnormalities Thrombocytopenia/genetics Upper Extremity Deformities, Congenital/genetics
 Abstract: Chromosomal band 1q21.1 can be divided into two distinct regions, proximal and distal, based on segmental duplications that mediate recurrent rearrangements. Microdeletions and microduplications of the distal region within 1q21.1, which are susceptibility factors for a variety of neurodevelopmental phenotypes, have been more extensively studied than proximal microdeletions and microduplications. Proximal microdeletions are known as a susceptibility factor for thrombocytopenia-absent radius (TAR) syndrome, but it is unclear if these proximal microdeletions have other phenotypic consequences. Therefore, to elucidate the clinical significance of rearrangements of the proximal 1q21.1 region, we evaluated the phenotypes in patients identified with 1q21.1 rearrangements after referral for clinical microarray testing. We report clinical information for 55 probands with copy number variations (CNVs) involving proximal 1q21.1: 22 microdeletions and 20 reciprocal microduplications limited to proximal 1q21.1 and 13 microdeletions that include both the proximal and distal regions. Six individuals with proximal microdeletions have TAR syndrome. Three individuals with proximal microdeletions and two individuals with larger microdeletions of proximal and distal 1q21.1 have a 'partial' TAR phenotype. Furthermore, one subject with TAR syndrome has a smaller, atypical deletion, narrowing the critical deletion region for the syndrome. Otherwise, phenotypic features varied among individuals with these microdeletions and microduplications. The recurrent, proximal 1q21.1 microduplications are enriched in our population undergoing genetic testing compared with control populations. Therefore, CNVs in proximal 1q21.1 can be a contributing factor for the development of abnormal phenotypes in some carriers.

Details

show
hide
Language(s): eng - English
 Dates: 2012-02-082012-07
 Publication Status: Published in print
 Pages: -
 Publishing info: -
 Table of Contents: -
 Rev. Type: Peer
 Identifiers: DOI: 10.1038/ejhg.2012.6
 Degree: -

Event

show

Legal Case

show

Project information

show

Source 1

show
hide
Title: European journal og human genetics : EJHG ; the official journal of the European Society of Human Genetics
  Other : Eur J Hum Genet
Source Genre: Journal
 Creator(s):
Affiliations:
Publ. Info: Basel : Karger
Pages: - Volume / Issue: 20 (7) Sequence Number: - Start / End Page: 754 - 761 Identifier: ISSN: 1018-4813
CoNE: https://pure.mpg.de/cone/journals/resource/954925585277_2