Document Detail

Tetrasomy 9p Mosaicism Associated with a Normal Phenotype in Two Cases.
MedLine Citation:
PMID:  22487875     Owner:  NLM     Status:  Publisher    
Tetrasomy 9p is a rare chromosomal syndrome and about 30% of known cases exhibit mosaicism. Approximately 50 of the reported cases with tetrasomy 9p mosaicism show a characteristic facial appearance, growth failure, and developmental delay. However, 3 patients with mosaicism for isochromosome 9p and a normal phenotype have also been reported. We report 2 additional cases of clinically normal young females with tetrasomy 9p mosaicism, one of whom also exhibited X chromosome aneuploidy mosaicism leading to an overall of 6 different cell lines. STR analysis performed on this complex mosaic case indicated that the extra isochromosome was of maternal origin while the X chromosome aneuploidy was of paternal origin, indicating a postzygotic event.
I Papoulidis; M Kontodiou; M Tzimina; I Saitis; A B Hamid; E Klein; N Kosyakova; U Kordaß; J Kunz; E Siomou; P Nicolaides; S Orru; L Thomaidis; T Liehr; M B Petersen; E Manolakos
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Publication Detail:
Type:  JOURNAL ARTICLE     Date:  2012-4-05
Journal Detail:
Title:  Cytogenetic and genome research     Volume:  -     ISSN:  1424-859X     ISO Abbreviation:  -     Publication Date:  2012 Apr 
Date Detail:
Created Date:  2012-4-10     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  101142708     Medline TA:  Cytogenet Genome Res     Country:  -    
Other Details:
Languages:  ENG     Pagination:  -     Citation Subset:  -    
Copyright Information:
Copyright © 2012 S. Karger AG, Basel.
Eurogenetica S.A., Thessaloniki and Athens, Greece.
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