| Steroid sulfatase deficiency and contiguous gene deletion syndrome amongst pregnant patients with low serum unconjugated estriols. | |
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MedLine Citation:
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PMID: 19609942 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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OBJECTIVE: To ascertain all prenatally diagnosed cases of Steroid Sulfatase (STS) deficiency in British Columbia between August 2002 and July 2007 to determine the incidence of this condition, the clinical and laboratory findings, and the risk of a contiguous gene deletion syndrome. METHODS: We reviewed the medical records of these patients to obtain detailed information about the maternal serum screening results, family history, investigations performed, and outcome of the pregnancy. RESULTS: Thirty pregnant patients were found to have a male fetus/infant with STS deficiency, giving a minimal estimated incidence of this condition of approximately 1 in 1513 males. In twenty nine cases, this condition was isolated. One patient was found to have a contiguous gene deletion syndrome. In cases of sporadic STS deficiency diagnosed prenatally, the frequency of contiguous gene deletion syndrome in this study was 1 out of 12 (8.3%). CONCLUSION: The clinical, cytogenetic and molecular data on this series of prenatally diagnosed cases of STS deficiency indicates that this is a common condition and in cases with no family history, the risk of contiguous gene deletion syndrome is significant, and warrants additional molecular genetic investigations of the mother and/or fetus. |
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Authors:
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Sylvie Langlois; Linlea Armstrong; Kim Gall; Gurdip Hulait; Janet Livingston; Tanya Nelson; Patricia Power; Denise Pugash; Dawn Siciliano; Michelle Steinraths; Andr?? Mattman |
Publication Detail:
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Type: Journal Article |
Journal Detail:
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Title: Prenatal diagnosis Volume: 29 ISSN: 1097-0223 ISO Abbreviation: Prenat. Diagn. Publication Date: 2009 Oct |
Date Detail:
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Created Date: 2009-10-05 Completed Date: 2009-12-29 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 8106540 Medline TA: Prenat Diagn Country: England |
Other Details:
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Languages: eng Pagination: 966-74 Citation Subset: IM |
Affiliation:
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Medical Genetics, University of British Columbia, Vancouver, Canada. slanglois@cw.bc.ca |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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British Columbia
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epidemiology DNA Mutational Analysis / methods Estriol / blood* Female Gene Deletion Genetic Diseases, Inborn / diagnosis, epidemiology*, genetics Humans Ichthyosis, X-Linked / diagnosis, epidemiology*, genetics Incidence Infant, Newborn Male Mothers* Pregnancy Pregnancy Trimester, Second / blood Prenatal Diagnosis / methods Retrospective Studies Syndrome |
| Chemical | |
Reg. No./Substance:
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50-27-1/Estriol |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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