uu.seUppsala University Publications
Change search
CiteExportLink to record
Permanent link

Direct link
Cite
Citation style
  • apa
  • ieee
  • modern-language-association
  • vancouver
  • Other style
More styles
Language
  • de-DE
  • en-GB
  • en-US
  • fi-FI
  • nn-NO
  • nn-NB
  • sv-SE
  • Other locale
More languages
Output format
  • html
  • text
  • asciidoc
  • rtf
A patient with 22q11.2 deletion and Opitz syndrome-like phenotype has the same deletion as velocardiofacial patients
Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Genetics and Pathology.
Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Genetics and Pathology.
2007 (English)In: American Journal of Medical Genetics Part A, ISSN 1552-4825, Vol. 143A, no 24, 3302-3308 p.Article in journal (Refereed) Published
Abstract [en]

Five patients were previously described with the Opitz (GBBB) syndrome (OMIM 145410) phenotype and 22q11.2 deletion determined by FISH but the precise limits of their deletions have not been determined. Since one locus for Opitz syndrome maps to 22q11.2 and chromosomal arrangements are frequently complex and could inactivate such a locus, we performed high-resolution array-based comparative genomic hybridization (CGH) on a new Opitz syndrome-like phenotype patient with a 22q11.2 deletion. He shares the same deletion as patients with velocardiofacial and DiGeorge syndrome.

Place, publisher, year, edition, pages
2007. Vol. 143A, no 24, 3302-3308 p.
Keyword [en]
Abnormalities, Multiple/diagnosis/genetics, Child, Preschool, Chromosome Deletion, Chromosomes/ultrastructure, Chromosomes, Human, Pair 22/*genetics, DiGeorge Syndrome/*genetics, Diagnosis, Differential, Facies, Humans, In Situ Hybridization, Fluorescence, Male, Phenotype, Smith-Lemli-Opitz Syndrome/*genetics, Syndrome
National Category
Medical and Health Sciences
Identifiers
URN: urn:nbn:se:uu:diva-16739DOI: 10.1002/ajmg.a.32025ISI: 000251405100055PubMedID: 18000907OAI: oai:DiVA.org:uu-16739DiVA: diva2:44510
Available from: 2008-06-03 Created: 2008-06-03 Last updated: 2011-03-25Bibliographically approved

Open Access in DiVA

No full text

Other links

Publisher's full textPubMedhttp://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=PubMed&cmd=Retrieve&list_uids=18000907&dopt=Citation
By organisation
Department of Genetics and Pathology
Medical and Health Sciences

Search outside of DiVA

GoogleGoogle Scholar

doi
pubmed
urn-nbn

Altmetric score

doi
pubmed
urn-nbn
Total: 319 hits
CiteExportLink to record
Permanent link

Direct link
Cite
Citation style
  • apa
  • ieee
  • modern-language-association
  • vancouver
  • Other style
More styles
Language
  • de-DE
  • en-GB
  • en-US
  • fi-FI
  • nn-NO
  • nn-NB
  • sv-SE
  • Other locale
More languages
Output format
  • html
  • text
  • asciidoc
  • rtf