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The ICF syndrome: new case and update.

Authors :
De Ravel TJ
Deckers E
Alliet PL
Petit P
Fryns JP
Source :
Genetic counseling (Geneva, Switzerland) [Genet Couns] 2001; Vol. 12 (4), pp. 379-85.
Publication Year :
2001

Abstract

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

Subjects

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

Details

Language :
English
ISSN :
1015-8146
Volume :
12
Issue :
4
Database :
MEDLINE
Journal :
Genetic counseling (Geneva, Switzerland)
Publication Type :
Academic Journal
Accession number :
11837609

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Authors Abstract Subjects Details