Document Detail

Mild phenotype in a patient with mosaic del(8p)/inv dup del(8p).
MedLine Citation:
PMID:  20830805     Owner:  NLM     Status:  In-Process    
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.
Matthew Hand; Carolyn Gray; Gwen Glew; Karen D Tsuchiya
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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.
University of Washington School of Medicine, Seattle, Washington, USA.
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