Document Detail

Analysis of 88 adult patients referred for genetics evaluation.
MedLine Citation:
PMID:  17639593     Owner:  NLM     Status:  MEDLINE    
We present a series of 88 adult patients referred for diagnostic genetic services in two settings. Patients referred for prenatal diagnosis, adult-onset neurodegenerative disease or cancer susceptibility counseling were specifically excluded from analysis. Information was obtained regarding age, gender, referral sources, previous genetics evaluation, referring diagnosis, final diagnosis, diagnostic test, and recommendations. The patients were able to be grouped into seven general categories: multiple congenital anomalies with or without mental retardation (26 patients), collagen-connective tissue disorders (18 patients), mental retardation (12 patients), chromosomal abnormalities (12 patients), bone growth disorders (6 patients), endocrine/metabolic (8 patients), and miscellaneous (6 patients). Patients and referring providers were not surveyed regarding utility of the evaluation. However, genetics notes were reviewed on all patients and potential benefits of the evaluation were identified. All patients had at least one potential benefit, with the majority having several. This study represents one of the largest published groups of non-institutionalized adult patients that have undergone comprehensive genetic evaluation. The role of the clinical geneticist as a member of the health care team in this population will be discussed.
Stephanie N Maves; Marc S Williams; Janet L Williams; Peter J Levonian; Kevin D Josephson
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Publication Detail:
Type:  Evaluation Studies; Journal Article    
Journal Detail:
Title:  American journal of medical genetics. Part C, Seminars in medical genetics     Volume:  145C     ISSN:  1552-4868     ISO Abbreviation:  -     Publication Date:  2007 Aug 
Date Detail:
Created Date:  2007-08-02     Completed Date:  2007-10-18     Revised Date:  2008-05-21    
Medline Journal Info:
Nlm Unique ID:  101235745     Medline TA:  Am J Med Genet C Semin Med Genet     Country:  United States    
Other Details:
Languages:  eng     Pagination:  232-40     Citation Subset:  IM    
Copyright Information:
(c) 2007 Wiley-Liss, Inc.
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MeSH Terms
Abnormalities, Multiple / diagnosis,  genetics
Genetic Diseases, Inborn / diagnosis*,  therapy
Mental Retardation / diagnosis,  genetics

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