Jacobsen syndrome: Chromosome deletion at llq23
Abstract: A male infant delivered at term to unrelated parents was found to have multiple dysmorphic facial characteristics, abnormal head shape, anemia, thrombocytopenia, a prominent holosystolic heart murmur with multiple cardiac defects, hypotonia, and was small for his gestational age. Karotype revealed a de novo deletion of the long arm of chromosome 11, del (11)(q23), which has been previously described as Jacobsen syndrome. Recent studies have demonstrated that a folate-sensitive fragile site at 11q, band 23, (1lq23) may be responsible for this deletion and possibly other syndromes as well.
- Location
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Deutsche Nationalbibliothek Frankfurt am Main
- Extent
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Online-Ressource
- Language
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Englisch
- Bibliographic citation
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Jacobsen syndrome: Chromosome deletion at llq23 ; volume:98 ; number:10 ; year:2023 ; pages:551-554 ; extent:4
Journal of osteopathic medicine ; 98, Heft 10 (2023), 551-554 (gesamt 4)
- Creator
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Clang, Daniel R.
LaBaere II, Richard J.
- DOI
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10.1515/jom-1998-0102
- URN
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urn:nbn:de:101:1-2023041314084004413068
- Rights
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Open Access; Der Zugriff auf das Objekt ist unbeschränkt möglich.
- Last update
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14.08.2025, 10:56 AM CEST
Data provider
Deutsche Nationalbibliothek. If you have any questions about the object, please contact the data provider.
Associated
- Clang, Daniel R.
- LaBaere II, Richard J.