Article Text

PDF

Differences in human X isochromosomes.
  1. J H Priest,
  2. R D Blackston,
  3. K S Au,
  4. S L Ray

    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.

    Statistics from Altmetric.com

    Request permissions

    If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.