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The ICF syndrome: new case and update.
De Ravel, T J; Deckers, E; Alliet, P L; Petit, P; Fryns, J P.
Genet Couns ; 12(4): 379-85, 2001.
Article in English | MEDLINE | ID: mdl-11837609

ABSTRACT

The ICF syndrome: New case and update: We report the clinical progress in a 5-year-old boy with the <> (ICF) syndrome. Early diagnosis and intervention has led to a good outcome. DNMT3B mutation analysis was negative, supporting genetic heterogeneity in this condition.


Subject(s)
Agammaglobulinemia , Centromere , Face/abnormalities , Agammaglobulinemia/genetics , Agammaglobulinemia/therapy , Child, Preschool , Chromosome Aberrations , Chromosomes, Human, Pair 1 , Chromosomes, Human, Pair 16 , Female , Genetic Heterogeneity , Humans , Karyotyping , Male , Syndrome , gamma-Globulins/therapeutic use
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