| Do some patients with Seckel syndrome have hematological problems and/or chromosome breakage? | |
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MedLine Citation:
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PMID: 3115102 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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We report on a 12-yr-old female and a 14-yr-old male with Seckel syndrome. The 12-yr-old female had pancytopenia, which is seen occasionally in patients with Seckel syndrome and is also a feature of Fanconi anemia, a well-recognized autosomal recessive dwarfism syndrome with chromosome instability. Chromosome breakage analysis of both of our patients also indicated chromosome instability. We suggest that there may be a subgroup of Seckel syndrome patients with chromosome instability and/or hematological problems. |
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Authors:
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M G Butler; B D Hall; R N Maclean; C B Lozzio |
Publication Detail:
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Type: Case Reports; Journal Article |
Journal Detail:
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Title: American journal of medical genetics Volume: 27 ISSN: 0148-7299 ISO Abbreviation: Am. J. Med. Genet. Publication Date: 1987 Jul |
Date Detail:
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Created Date: 1987-10-01 Completed Date: 1987-10-01 Revised Date: 2004-11-17 |
Medline Journal Info:
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Nlm Unique ID: 7708900 Medline TA: Am J Med Genet Country: UNITED STATES |
Other Details:
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Languages: eng Pagination: 645-9 Citation Subset: IM |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Abnormalities, Multiple
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genetics Adolescent Child Chromosome Aberrations Chromosome Fragility* Chromosomes, Human / drug effects Dwarfism / classification*, genetics, pathology Female Humans Male Mitomycin Mitomycins / pharmacology Pancytopenia / genetics* Syndrome |
| Chemical | |
Reg. No./Substance:
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0/Mitomycins; 50-07-7/Mitomycin |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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