Differences in human X isochromosomes

Abstract

In this paper we describe two types of i(Xq), in three patients. A classification is proposed for at least seven different types of human i(Xq)s or X long-arm duplications described by banding in the literature. Type 1 reported here and also in the literature may be the most common. It consists of a single visible centromere, metacentric, length similar to number 3, G-banding interpreted as i(X)(qter leads to cen leads to qter), one C-band like a normal X. Type 2 reported here may not have a counterpart in the literature; it exhibits a single visible centromere, submetacentric, length similiar to number 3, extra G- and C-bands on region ql. The classification summarized in this paper implies that different breakpoints are involved in the production of human X long-arm isochromosomes or duplications. Some include duplications of short arm. Morphological differences in i(Xq)s will complicate their use for studying the effect of X chromosome structure on phenotype, unless differences are defined clearly. It seems important to resolve the question of whether these reported abnormal X chromosomes involve rearrangements between the same or two X chromosomes. We also report X chromosome defects in three generations of a family; both the mother and maternal grandmother of one 45,X,i(Xq)/45,X patient are themselves mosaics for 45,X/46,XX/46,X,r(X). This family suggests that familial predisposition to X chromosome abnormality included isochromosome formation, as well as ring formation and mosaicism.