| Noonan syndrome: prenatal diagnosis in a woman carrying a PTPN11 gene mutation. | |
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MedLine Citation:
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PMID: 20064076 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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OBJECTIVE: To describe the case of a pregnant woman and her fetus with Noonan syndrome (NS) whom were diagnosed through ultrasonography 3D and molecular analysis of the PTPN11 gene. STUDY DESIGN: Case report. RESULTS: We detected in a pregnant woman and her child the G<A transition at position 236 in exon 3 of the PTPN11 gene causative of NS. Antenatal diagnosis was possible through ultrasonography in the 24th week of gestation. CONCLUSIONS: Ultrasonography 3D is useful in the antenatal diagnosis of major congenital anomalies. Molecular studies should also be included to confirm the specific diagnosis. |
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Authors:
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Norma Celia González-Huerta; Juan Manuel Valdés-Miranda; Adrián Pérez-Cabrera; Guillermo Pacheco-Cuellar; Luz Maria González-Huerta; Sergio Alberto Cuevas-Covarrubias |
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Publication Detail:
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Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't |
Journal Detail:
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Title: The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians Volume: 23 ISSN: 1476-4954 ISO Abbreviation: J. Matern. Fetal. Neonatal. Med. Publication Date: 2010 Jul |
Date Detail:
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Created Date: 2010-06-14 Completed Date: 2010-09-29 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 101136916 Medline TA: J Matern Fetal Neonatal Med Country: England |
Other Details:
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Languages: eng Pagination: 688-91 Citation Subset: IM |
Affiliation:
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Servicio de Genética, Instituto Nacional de Rehabilitación, Hospital General de México, Facultadde Medicina, Universidad Nacional Autónoma de México, México DF, México. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Adult Base Sequence DNA Mutational Analysis Female Genetic Testing Heterozygote Humans Imaging, Three-Dimensional Mutation* / physiology Noonan Syndrome / diagnosis*, genetics Pregnancy Protein Tyrosine Phosphatase, Non-Receptor Type 11 / genetics* Ultrasonography, Prenatal* / methods |
| Chemical | |
Reg. No./Substance:
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EC 3.1.3.48/PTPN11 protein, human; EC 3.1.3.48/Protein Tyrosine Phosphatase, Non-Receptor Type 11 |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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