Document Detail


Ring chromosome 10: report on two patients and review of the literature.
MedLine Citation:
PMID:  23247912     Owner:  NLM     Status:  Publisher    
Abstract/OtherAbstract:
Ring chromosome 10-r(10)-is a rare disorder, with 14 cases reported in the literature, but only two with breakpoint determination by high-resolution techniques. We report here on two patients presenting a ring chromosome 10, studied by G-banding, fluorescent in situ hybridization (FISH), multiplex ligation-dependent probe amplification (MLPA) and SNP-array techniques, in order to investigate ring instability and determine breakpoints. Patient 1 showed a r(10)(p15.3q26.2) with a 7.9 Mb deletion in 10q26.2-q26.2, while patient 2 showed a r(10)(p15.3q26.13) with a 1.0 Mb deletion in 10p15.3 and a 8.8 Mb deletion in 10q26.13-q26.3, both unstable. While patient 1 presented with clinical features usually found in patients with r(10) and terminal 10q deletion, patient 2 presented characteristics so far not described in other patients with r(10), such as Dandy-Walker variant, osteopenia, semi-flexed legs, and dermal pigmentation regions. Our data and the data from literature show that there are no specific clinical findings to define a r(10) syndrome.
Authors:
Roberta Santos Guilherme; Chong Ae Kim; Luis Garcia Alonso; Rachel S Honjo; Vera Ayres Meloni; Denise Maria Christofolini; Leslie Domenici Kulikowski; Maria Isabel Melaragno
Publication Detail:
Type:  JOURNAL ARTICLE     Date:  2012-12-18
Journal Detail:
Title:  Journal of applied genetics     Volume:  -     ISSN:  2190-3883     ISO Abbreviation:  J. Appl. Genet.     Publication Date:  2012 Dec 
Date Detail:
Created Date:  2012-12-18     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  9514582     Medline TA:  J Appl Genet     Country:  -    
Other Details:
Languages:  ENG     Pagination:  -     Citation Subset:  -    
Affiliation:
Genetics Division, Department of Morphology and Genetics, Universidade Federal de São Paulo, Rua Botucatu 740, CEP 04023-900, São Paulo, Brazil.
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