Document Detail


Mild phenotype in a patient with mosaic del(8p)/inv dup del(8p).
MedLine Citation:
PMID:  20830805     Owner:  NLM     Status:  In-Process    
Abstract/OtherAbstract:
We report on a female with a mild phenotype who is mosaic for two cell lines with different structural abnormalities of 8p, both resulting in large genomic imbalances. Molecular cytogenetic and G-banded chromosome analyses demonstrated that one cell line has a large terminal 8p deletion, with a breakpoint in 8p21.2. The other cell line contains a derivative chromosome 8, known as an inv dup del(8p) in the literature. This female has developmental delay, but lacks congenital anomalies that are associated with either 8p abnormality in non-mosaic form. The attenuated phenotype in this individual may be due to compensation of one cell line for imbalances in the other cell line.
Authors:
Matthew Hand; Carolyn Gray; Gwen Glew; Karen D Tsuchiya
Related Documents :
10686945 - Sima, a new neuroblastoma cell line combining poor prognostic cytogenetic markers with ...
1503405 - Clonal drift and role of chromosome dosage in human melanoma metastatic cell lines: a s...
885285 - Chromosomal characteristic of chinese hamster cells and their hgprt-deficient mutant line.
21726665 - Three new loci for determining x chromosome inactivation patterns.
21041555 - Differential maintenance of dna sequences in telomeric and centromeric heterochromatin.
19966805 - The imprinted dlk1-meg3 gene region on chromosome 14q32.2 alters susceptibility to type...
Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  American journal of medical genetics. Part A     Volume:  152A     ISSN:  1552-4833     ISO Abbreviation:  Am. J. Med. Genet. A     Publication Date:  2010 Nov 
Date Detail:
Created Date:  2010-10-27     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  101235741     Medline TA:  Am J Med Genet A     Country:  United States    
Other Details:
Languages:  eng     Pagination:  2827-31     Citation Subset:  IM    
Copyright Information:
© 2010 Wiley-Liss, Inc.
Affiliation:
University of Washington School of Medicine, Seattle, Washington, USA.
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:  Phenotypic features of carbohydrate sulfotransferase 3 (CHST3) deficiency in 24 patients: Congenital...
Next Document:  The release of cytokines by macrophages is not affected by myelin ingestion.