Inherited Chondrodysplasia Punctata Due to a Deletion of the Terminal Short Arm of an X Chromosome

Cynthia J.R. Curry, R. Ellen Magenis, Michael Brown, Joseph T. Lanman, Joseph Tsai, Patricia O'lague, Peter Goodfellow, T. Mohandas, E. Ann Bergner, Larry T. Shapiro

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    155 Scopus citations

    Abstract

    We studied two families with an inherited deletion of the short arm of an X chromosome (Xp) in which affected male offspring have epiphyseal stippling in infancy (chondrodysplasia punctata), nasal hypoplasia, ichthyosis, and mental retardation. The presence of ichthyosis and the apparent pattern of X-linked recessive inheritance prompted investigation of the short arm of the X chromosome through studies of genetic markers and focused cytogenetic analysis. Biochemical studies suggested that there was a deletion of three genes previously mapped to the X-chromosome short arm, including the steroid sulfatase locus, the Xg locus, and the M1C2X locus. Prometaphase chromosomes demonstrated a deletion of Xp at p22.32 in the affected boys, in their obligate-carrier mothers, and in 11 of 25 women at risk as potential carriers. The women carrying the Xp deletion had normal gonadal function and fertility but were shorter than the noncarriers in their families (P<0.00001). These findings have implications for the genetic organization of this portion of the human X chromosome and demonstrate that small cytogenetic abnormalities may account for disorders with apparent mendelian patterns of inheritance.

    Original languageEnglish
    Pages (from-to)1010-1015
    Number of pages6
    JournalNew England Journal of Medicine
    Volume311
    Issue number16
    DOIs
    StatePublished - Oct 18 1984

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