ICF syndrome: high variability of the chromosomal phenotype and association with classical Hodgkin lymphoma.
Publication year
2007Source
American Journal of Medical Genetics. Part A, 143, 17, (2007), pp. 2052-7ISSN
Publication type
Article / Letter to editor
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Organization
Human Genetics
Journal title
American Journal of Medical Genetics. Part A
Volume
vol. 143
Issue
iss. 17
Page start
p. 2052
Page end
p. 7
Subject
IGMD 3: Genomic disorders and inherited multi-system disorders; UMCN 1.2: Molecular diagnosis, prognosis and monitoringAbstract
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.
This item appears in the following Collection(s)
- Academic publications [238430]
- Faculty of Medical Sciences [90359]
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