| Duplication 4q associated with chronic cholestatic changes in liver biopsy. | |
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MedLine Citation:
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PMID: 20826235 Owner: NLM Status: In-Process |
Abstract/OtherAbstract:
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We report a 15-day-old girl with partial trisomy 4q syndrome who presented with neonatal cholestasis. She had dysmorphic facial features and preaxial polysyndactyly of the right hand. The other findings were generalized hypertrichosis, pes equinovarus, oedema on feet and mild hepatomegaly. No specific reason for the cholestasis with elevated liver enzymes and direct bilirubinemia were characterized. Cytogenetic analyses revealed a karyotype 46,XX,der(13)t(4;13)(q25;p13). This is the first patient with partial trisomy 4q syndrome presented with neonatal cholestasis. |
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Authors:
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Odul Egritas; Busranur Cavdarli; Buket Dalgic; Mehmet Ali Ergun; Ferda Percin; Monika Ziegler; Beate Pohle; Thomas Liehr |
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Publication Detail:
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Type: Journal Article Date: 2010-09-06 |
Journal Detail:
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Title: European journal of medical genetics Volume: 53 ISSN: 1878-0849 ISO Abbreviation: Eur J Med Genet Publication Date: 2010 Nov-Dec |
Date Detail:
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Created Date: 2010-11-16 Completed Date: - Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 101247089 Medline TA: Eur J Med Genet Country: Netherlands |
Other Details:
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Languages: eng Pagination: 411-4 Citation Subset: IM |
Copyright Information:
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Copyright © 2010 Elsevier Masson SAS. All rights reserved. |
Affiliation:
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Gazi University Faculty of Medicine, Department of Pediatric Gastroenterology, Ankara, Turkey. odulmd2003@yahoo.com |
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