| Prenatal diagnosis and genetic counseling of mucopolysaccharidosis type II (Hunter syndrome). | |
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MedLine Citation:
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PMID: 17515300 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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We present prenatal diagnosis of mucopolysaccharidosis type II (MPS II) (Hunter syndrome) and demonstrate marked mucopolysaccharide deposition in multiple vital organs in a 22-gestational-week affected fetus. Level II ultrasound showed cardiomegaly and hepatomegaly. Histological examinations of the fetal vital organs manifested marked mucopolysaccharide deposition. We suggest that any therapeutic approach and counseling for prenatally diagnosed MPS II should consider the early signs of in utero marked mucopolysaccharide storage. |
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Authors:
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C P Chen; S P Lin; C Y Tzen; W L Hwu; S R Chern; C K Chuang; S S Chiang; W Wang |
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: Genetic counseling (Geneva, Switzerland) Volume: 18 ISSN: 1015-8146 ISO Abbreviation: Genet. Couns. Publication Date: 2007 |
Date Detail:
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Created Date: 2007-05-22 Completed Date: 2007-06-21 Revised Date: 2007-07-19 |
Medline Journal Info:
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Nlm Unique ID: 9015261 Medline TA: Genet Couns Country: Switzerland |
Other Details:
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Languages: eng Pagination: 49-56 Citation Subset: IM |
Affiliation:
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Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan. cpc_mmh@yahoo.com |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Aborted Fetus
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pathology Abortion, Induced DNA Mutational Analysis Female Genetic Counseling* Glycoproteins / genetics Glycosaminoglycans / analysis Humans Male Mucopolysaccharidosis II / diagnosis*, embryology, pathology, ultrasonography Mutation, Missense Pregnancy Pregnancy Trimester, Second Prenatal Diagnosis* Ultrasonography, Prenatal |
| Chemical | |
Reg. No./Substance:
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0/Glycoproteins; 0/Glycosaminoglycans; 0/IDS protein, human |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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