[ICF syndrome. Immunodeficiency, chromosomal centromere instability, facial anomalies. Case report and literature review].
Instability of the heterochromatic centromeric regions of chromosomes 1 and 16 associated with immunodeficiency (decreased IgA, IgG and IgM) and facial dysmorphism were found in a 1 1/2 year old boy. 64.5% of his lymphocytes had chromosomal abnormalities: Stretching of the heterochromatic centromeric regions of the chromosomes 1 and 16, homologous and non-homologous associations and multi-branched configurations of chromosomes 1 and 16. Similar phenotypic and chromosomal abnormalities were described in 8 previously by published cases.
Kieback
P
P
Institut für Klinische Genetik, Medizinische Akademie, Dresden, Bundesrepublik Deutschland.
Wendisch
H
H
Lorenz
P
P
Hinkel
K
K
D000015:Abnormalities, Multiple / Q000235:genetics*; D002869:Chromosome Aberrations / Q000235:genetics*; D025063:Chromosome Disorders; D002878:Chromosomes, Human, Pair 1; D002885:Chromosomes, Human, Pair 16; D005147:Facial Bones / Q000002:abnormalities*; D006801:Humans; D007153:Immunologic Deficiency Syndromes / Q000175:diagnosis* / Q000235:genetics; D007223:Infant; D007621:Karyotyping; D008297:Male; D010641:Phenotype; D013577:Syndrome
ICF-Syndrom. Immundefizienz, chromosomale Zentromerinstabilität, faziale Anomalien. Fallvorstellung und Literaturübersicht.