| The atypical 16p11.2 deletion: A not so atypical microdeletion syndrome? | |
| | |
MedLine Citation:
|
PMID: 21465664 Owner: NLM Status: Publisher |
Abstract/OtherAbstract:
|
One of the recently recognized microdeletion syndromes is the 16p11.2 deletion syndrome (593 kb; ∼29.5 Mb to ∼30.1 Mb), associated with developmental delay, autism spectrum disorder, epilepsy, and obesity. Less frequently reported is a smaller 220 kb deletion, adjacent and distal to this 16p11.2 deletion, which has been referred to as the atypical 16p11.2 deletion (220 kb; ∼28.74 Mb to ∼28.95 Mb). We describe three patients with this deletion and update the manifestations in two sibs who have been described as possibly new entity in this Journal in 1997 [Bakker and Hennekam (1997); Am J Med Genet 70:312-314] and were recently found to have the "atypical 16p11.2 deletion" as well. Patients show a developmental delay, behavioral problems, and unusual facial morphology (prominent forehead, downslanted, and narrow palpebral fissures), and some are obese. We suggest that this "atypical" deletion may turn out to become a microdeletion syndrome that will be recognizable in the future, or at least to show a phenotype that is recognizable in retrospect. As it may no longer be so "atypical," we suggest renaming the entity "distal 16p11.2 deletion," to distinguish it from the common proximal 16p11.2 deletion. © 2011 Wiley-Liss, Inc. |
| | |
Authors:
|
Daniela Q C M Barge-Schaapveld; Saskia M Maas; Abeltje Polstra; Lia C Knegt; Raoul C M Hennekam |
Related Documents
:
|
10936864 - Thrombotic thrombocytopenic purpura in pulmonary-renal syndromes. 3799714 - Branchio-oto-renal syndrome: reduced penetrance and variable expressivity in four gener... 343914 - Fanconi syndrome associated with cephalothin and gentamicin therapy. 17680274 - Rare variant of lesch-nyhan syndrome without self-mutilation or nephrolithiasis. 22333894 - Operating characteristics of a qualitative troponin assay for the diagnosis of acute co... 2343004 - Structural hair abnormalities in ectodermal dysplasia. |
Publication Detail:
|
Type: JOURNAL ARTICLE Date: 2011-4-4 |
Journal Detail:
|
Title: American journal of medical genetics. Part A Volume: - ISSN: 1552-4833 ISO Abbreviation: - Publication Date: 2011 Apr |
Date Detail:
|
Created Date: 2011-4-5 Completed Date: - Revised Date: - |
Medline Journal Info:
|
Nlm Unique ID: 101235741 Medline TA: Am J Med Genet A Country: - |
Other Details:
|
Languages: ENG Pagination: - Citation Subset: - |
Copyright Information:
|
Copyright © 2011 Wiley-Liss, Inc. |
Affiliation:
|
Department of Clinical Genetics, Academic Medical Centre, UVA, Amsterdam, The Netherlands. d.q.barge-schaapveld@amc.uva.nl. |
Export Citation:
|
APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
|
|
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
Previous Document: Three sibs with microcephaly, clubfeet and agenesis of corpus callosum: A new genetic syndrome?
Next Document: Urovysion: Considerations on modifying current evaluation scheme, including immunophenotypic targeti...