47,X,idic(Y),inv dup(Y): a non-mosaic case of a phenotypically normal boy with two different Y isochromosomes and neocentromere formation.

A de novo aberrant karyotype with 47 chromosomes including 2 different-sized markers was identified during prenatal diagnosis. Fluorescence in situ hybridization (FISH) with a Y painting probe tagged both marker chromosomes which were supposed to be isochromosomes of the short and the long arm, respectively. A normal boy was born in time who shows normal physical and mental development.

[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.