| Complex conotruncal heart defect, severe bleeding disorder and 22q11 deletion: a new case of Bernard-Soulier syndrome and of 22q11 deletion syndrome? | |
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MedLine Citation:
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PMID: 11453587 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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A patient with a deletion in the DiGeorge/velocardiofacial chromosomal region in 22q11, underwent cardiac repair for truncus arteriosus with a separate origin of the pulmonary arteries. This patient presented with a severe coagulation disorder similar to that described in the Bernard-Soulier syndrome. Additional features included minor facial anomalies, transient hypocalcemia and renal failure. To the best of our knowledge, this is the third case of a severe bleeding disorder associated with 22q 11 deletion reported in the literature. |
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Authors:
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M R Lascone; M Sacchelli; S Vittorini; S Giusti |
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Publication Detail:
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Type: Case Reports; Journal Article |
Journal Detail:
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Title: Italian heart journal : official journal of the Italian Federation of Cardiology Volume: 2 ISSN: 1129-471X ISO Abbreviation: Ital Heart J Publication Date: 2001 Jun |
Date Detail:
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Created Date: 2001-07-16 Completed Date: 2001-12-04 Revised Date: 2004-11-17 |
Medline Journal Info:
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Nlm Unique ID: 100909716 Medline TA: Ital Heart J Country: Italy |
Other Details:
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Languages: eng Pagination: 475-7 Citation Subset: IM |
Affiliation:
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Molecular Biology Laboratory, G. Pasquinucci Hospital, Massa, Italy. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Bernard-Soulier Syndrome
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complications,
congenital Chromosome Deletion Chromosomes, Human, Pair 22* Family Health Heart Defects, Congenital / complications* Hemorrhage / complications* Humans Infant, Newborn Male |
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