Document Detail

Mosaic tetrasomy 14pter-q13 due to a supernumerary isodicentric derivate of proximal chromosome 14q.
MedLine Citation:
PMID:  15723300     Owner:  NLM     Status:  MEDLINE    
Tetrasomy of proximal 14q is an extremely rare condition and has never been reported to be associated with survival. We here report on the first case of mosaic tetrasomy of 14pter-q13 due to a de-novo supernumerary pseudoisodicentric chromosome in a 2-year-old boy with multiple dysmorphisms and malformations. The marker was detectable in nearly 25% of lymphocytes as well as in cells from buccal mucosa. Detailed fluorescence in situ hybridization (FISH) analyses allowed the characterization of the marker to entirely consist of proximal 14q material and to be symmetric. The pattern of clinical features in our patient only slightly correspond to that of patients with trisomy of proximal 14q, but further cases are needed to define whether tetrasomy of proximal 14q is a separate entity.
Thomas Eggermann; Ulrike Gamerdinger; Kristin Bosse; Christiane Heidrich-Kaul; Ruth Raff; Esther Meyer; Ingeborg Heil; Herdit Schüler; Eckhard Korsch; Gesa Schwanitz
Publication Detail:
Type:  Case Reports; Comparative Study; Journal Article; Review    
Journal Detail:
Title:  American journal of medical genetics. Part A     Volume:  134     ISSN:  1552-4825     ISO Abbreviation:  Am. J. Med. Genet. A     Publication Date:  2005 Apr 
Date Detail:
Created Date:  2005-03-24     Completed Date:  2005-05-09     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  101235741     Medline TA:  Am J Med Genet A     Country:  United States    
Other Details:
Languages:  eng     Pagination:  305-8     Citation Subset:  IM    
Institute of Human Genetics, University Hospital Aachen, Aachen, Germany.
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MeSH Terms
Child, Preschool
Chromosome Banding
Chromosome Disorders / genetics,  pathology
Chromosomes, Human, Pair 4 / genetics*
In Situ Hybridization, Fluorescence

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