Fragility of the Centromeric Region of Chromosome 1 Associated with Combined Immunodeficiency in Siblings A Recessively Inherited Entity?

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Abstract
Instability of the centromeric region of chromosome 1, and multibranched configuration formed by the short and long arms were seen in a brother and sister with facial dysmorphism, mental retardation and recurrent infections. No chromosomal abnormalities were seen in the parents, who were first cousins. The fragility of chromosome 1 was identified in amniotic fluid cells of the sister. A combined immunodeficiency characterized by a lack of immunoglobulin production, low numbers of T cells and a lack of cells with NK cell markers was diagnosed. This is the first report of familial occurrence of this unique chromosomal aberration. The cause may be a autosomal recessive gene defect.