| Prader-Willi-like phenotype in fragile X syndrome. | |
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MedLine Citation:
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PMID: 8062434 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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A 3-year-old boy was referred to the pediatric department because of unexplained extreme obesity. Height and occipitofrontal circumference were just above the 90th centile. Endocrine studies failed to show any significant abnormality. Motor and speech development were generally delayed. On clinical-cytogenetic-molecular grounds, Prader-Willi syndrome was excluded. Fragile X syndrome was diagnosed by the presence of the classical FMR-1 mutation and confirmed by cytogenetic studies, revealing 20% fragile X positive cells. We compare the clinical features in the present patient with the nine reported patients with fra(X) syndrome and extreme obesity. In pathogenesis, hypothalamic dysregulation is hypothesized. In differential diagnosis of Prader-Willi syndrome, fragile X has to be considered, especially when laboratory workup for Prader-Willi syndrome is negative. Clinical behavior can be of help. |
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Authors:
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C Schrander-Stumpel; W J Gerver; H Meyer; J Engelen; H Mulder; J P Fryns |
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Publication Detail:
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Type: Case Reports; Journal Article |
Journal Detail:
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Title: Clinical genetics Volume: 45 ISSN: 0009-9163 ISO Abbreviation: Clin. Genet. Publication Date: 1994 Apr |
Date Detail:
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Created Date: 1994-09-21 Completed Date: 1994-09-21 Revised Date: 2004-11-17 |
Medline Journal Info:
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Nlm Unique ID: 0253664 Medline TA: Clin Genet Country: DENMARK |
Other Details:
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Languages: eng Pagination: 175-80 Citation Subset: IM |
Affiliation:
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Department of Clinical Genetics, Maastricht University Hospital, The Netherlands. |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Body Weight
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genetics Child, Preschool DNA / genetics Diagnosis, Differential Fragile X Syndrome / diagnosis, genetics*, physiopathology Growth / genetics Humans Male Phenotype Prader-Willi Syndrome / diagnosis, genetics*, physiopathology |
| Chemical | |
Reg. No./Substance:
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9007-49-2/DNA |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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