Document Detail


ICF syndrome: high variability of the chromosomal phenotype and association with classical Hodgkin lymphoma.
MedLine Citation:
PMID:  17702009     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
We report on two sibs with ICF syndrome (immunodeficiency, centromeric heterochromatin instability, and facial anomalies) diagnosed in the elder brother based on the typical chromosomal abnormalities present in 56% of metaphases from cultured lymphocytes. In a previous cytogenetic analysis this diagnosis had been missed due to low manifestation of the ICF chromosomal phenotype. Hypomethylation of classical satellites 2 and 3, and of alpha-satellite DNA was shown in the lymphocytes of the younger sister. At 7 years of age the boy presented with hemiplegia due to tumerous invasion of the right brachial plexus. Histopathology revealed classical Hodgkin lymphoma, a neoplasia which might have been facilitated by the underlying genetic defect.
Authors:
C Schuetz; G Barbi; T F E Barth; M Hoenig; A Schulz; P Möeller; D Smeets; J C de Greef; S M van der Maarel; W Vogel; K-M Debatin; W Friedrich
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  American journal of medical genetics. Part A     Volume:  143A     ISSN:  1552-4825     ISO Abbreviation:  Am. J. Med. Genet. A     Publication Date:  2007 Sep 
Date Detail:
Created Date:  2007-08-23     Completed Date:  2007-10-23     Revised Date:  2008-11-21    
Medline Journal Info:
Nlm Unique ID:  101235741     Medline TA:  Am J Med Genet A     Country:  United States    
Other Details:
Languages:  eng     Pagination:  2052-7     Citation Subset:  IM    
Copyright Information:
Copyright 2007 Wiley-Liss, Inc.
Affiliation:
Department of Pediatrics and Adolescent Medicine, University Hospital, Ulm, Germany.
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MeSH Terms
Descriptor/Qualifier:
Centromere / genetics
Child
Child, Preschool
Chromosomal Instability / genetics*
Facial Bones / abnormalities*
Female
Genetic Variation*
Heterochromatin / genetics
Hodgkin Disease / diagnosis,  genetics*
Humans
Immunologic Deficiency Syndromes / diagnosis,  genetics*
Male
Phenotype*
Chemical
Reg. No./Substance:
0/Heterochromatin

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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