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  • Title: Duplication of the short arm of the X chromosome in mother and daughter.
    Author: Tuck-Muller CM, Martinez JE, Batista DA, Kearns WG, Wertelecki W.
    Journal: Hum Genet; 1993 May; 91(4):395-400. PubMed ID: 8500796.
    Abstract:
    An 11-year-old girl with short stature, mental retardation, and mild dysmorphic features was found to have an inverted duplication of most of the short arm of the X chromosome [dic inv dup(X)(qter-->p22.3::p22.3-->cen:)]. Her mother, who is also short and retarded, carries the same duplication. Fluorescence in situ hybridization with an X chromosome library, and with X centromere-specific alpha satellite and telomere probes, was useful in characterizing the duplication. In most females with structurally abnormal X chromosomes, the abnormal chromosome is inactivated. Although the duplicated X was consistently late replicating in the mother, X chromosome inactivation studies in the proband indicated that in 11% of her lymphocytes the duplicated X was active.
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