ICF syndrome: high variability of the chromosomal phenotype and association with classical Hodgkin lymphoma.
Am J Med Genet A
; 143A(17): 2052-7, 2007 Sep 01.
Article
in En
| MEDLINE
| ID: mdl-17702009
ABSTRACT
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.
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Collection:
01-internacional
Database:
MEDLINE
Main subject:
Phenotype
/
Genetic Variation
/
Hodgkin Disease
/
Chromosomal Instability
/
Facial Bones
/
Immunologic Deficiency Syndromes
Type of study:
Diagnostic_studies
/
Risk_factors_studies
Limits:
Child
/
Child, preschool
/
Female
/
Humans
/
Male
Language:
En
Journal:
Am J Med Genet A
Year:
2007
Document type:
Article