Document Detail

Interstitial deletion of 7q31.32 → q33 secondary to a paracentric inversion of a maternal chromosome 7.
MedLine Citation:
PMID:  21056704     Owner:  NLM     Status:  In-Data-Review    
Carriers of paracentric inversions (PAIs) are usually asymptomatic. However, such inversions may lead to the formation of recombinant gametes and then to an abnormal gestation. Here we report a girl with a 7q31.32 → q33 deletion secondary to a maternal PAI of chromosome 7. This finding was confirmed through FISH and whole-genome array-CGH analyses. The deficiency of the chromosome 7 observed in our patient was never described before and we did not find any known gene localized within the deficient segment that could be related to her findings of hypoplastic iliac bones, hypoplastic labia minora and postaxial polydactyly. This case highlights the fact that rare viable recombinants can be developed from PAIs, an issue that must be discussed in the genetic counseling.
Giorgio Adriano Paskulin; Mariluce Riegel; Rafael Fabiano Machado Rosa; Carla Graziadio; Paulo Ricardo Gazzola Zen
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Publication Detail:
Type:  Journal Article     Date:  2010-11-05
Journal Detail:
Title:  European journal of medical genetics     Volume:  54     ISSN:  1878-0849     ISO Abbreviation:  Eur J Med Genet     Publication Date:    2011 Mar-Apr
Date Detail:
Created Date:  2011-03-14     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  101247089     Medline TA:  Eur J Med Genet     Country:  Netherlands    
Other Details:
Languages:  eng     Pagination:  181-5     Citation Subset:  IM    
Copyright Information:
Copyright © 2010 Elsevier Masson SAS. All rights reserved.
Clinical Genetics, Universidade Federal de Ciências da Saúde de Porto Alegre (UFCSPA) and Complexo Hospitalar Santa Casa de Porto Alegre (CHSCPA), RS, Brazil; Graduate Program in Pathology, UFCSPA, RS, Brazil.
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