| Array CGH on unstimulated blood does not detect all cases of Pallister-Killian syndrome: A skin biopsy should remain the diagnostic gold standard. | |
| | |
MedLine Citation:
|
PMID: 22315202 Owner: NLM Status: Publisher |
Abstract/OtherAbstract:
|
A child whose features are consistent with Pallister-Killian syndrome (PKS) did not have detectable tetrasomy 12p due to an additional isochromosome 12p in an unstimulated blood specimen by interphase FISH or array CGH analysis. The diagnosis of PKS was made through these methods solely in a skin biopsy specimen. To determine the sensitivity of our array CGH platform to tetrasomy 12p mosaicism, dilutions of DNA from both the child's skin fibroblasts and a PKS cell line were analyzed. Tetrasomy 12p at 10% mosaicism was identifiable but 5% was below the limit of detection. This result suggests through extrapolation that the tetrasomy 12p is present in <10% of cells in our patient's blood, confirming the tissue-limited mosaicism of PKS. Multiple recent studies show that array CGH provides greater sensitivity than chromosome analysis to detect mosaic abnormalities including that of tetrasomy 12p in blood specimens. However, our case demonstrates that the biology of PKS precludes the exclusive use of array CGH on blood for diagnosis. A tissue sample should continue to be the diagnostic gold standard for PKS. © 2012 Wiley Periodicals, Inc. |
| | |
Authors:
|
Jennelle C Hodge; Rachael L Hulshizer; Pam Seger; Angelique St Antoine; Jennifer Bair; Salman Kirmani |
Publication Detail:
|
Type: JOURNAL ARTICLE Date: 2012-2-7 |
Journal Detail:
|
Title: American journal of medical genetics. Part A Volume: - ISSN: 1552-4833 ISO Abbreviation: - Publication Date: 2012 Feb |
Date Detail:
|
Created Date: 2012-2-8 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 © 2012 Wiley Periodicals, Inc. |
Affiliation:
|
Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota; Department of Medical Genetics, Mayo Clinic, Rochester, Minnesota. hodge.jennelle@mayo.edu. |
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: pH-Sensitive Capsules as Intracellular Optical Reporters for Monitoring Lysosomal pH Changes Upon St...
Next Document: Use and non-use of genetic counseling after diagnosis of a birth defect.