![]() This was evidence of close situation of the STS locus and the CDPX1 locus. Deletion of the distal short arm of the X chromosome had been inherited from the mother who had a balanced reciprocal translocation between 9p and Xp. (1991) described a male infant with short stature, chondrodysplasia punctata, and ichthyosis due to steroid sulfatase deficiency. (1989) concluded that CPXR is located just proximal to MIC2 in the most distal portion of Xp, which is pseudoautosomal. (1984) and included the Kallmann gene (KAL1 300836).īy a study of cases of various deletions of Xp, Ballabio et al. (1989) was larger than that described by Curry et al. The deletion in the family reported by Bick et al. The skin lesions resembled those of X-linked ichthyosis ( 308100). ![]() The women carrying the deletion had normal gonadal function and fertility but were shorter of stature than noncarriers in their families (p less than 0.00001). (1984) reported that the steroid sulfatase (STS 300747), XG ( 300879), and MIC2X ( 313470) loci were also deleted. High-resolution cytogenetics showed a small deletion at Xp22.32 in all 4 affected males, their carrier mothers, and several potential carrier females. In both of the males studied, cultured fibroblasts showed steroid sulfatase deficiency. All 4 had greatly elevated cholesterol sulfate this measure was normal in carrier females. Because atypical ichthyosis was a feature, the steroid sulfatase system was investigated. Two families were studied, each with 2 affected males. (1982) concluded that X-linked chondrodysplasia punctata may be determined by a locus at Xp22.32. Philadelphia, PA: Elsevier 2020:chap 35.Curry et al. Sex-linked and nontraditional modes of inheritance. Creasy and Resnik's Maternal-Fetal Medicine: Principles and Practice. In: Resnik R, Lockwood CJ, Moore TR, Greene MF, Copel JA, Silver RM, eds. Human genetics and patterns of inheritance. This is called "skewed X-inactivation." These females may have symptoms similar to those of males, or they may have only mild symptoms.įeero WG, Zazove P, Chen F. However, this is not technically correct.įemale carriers can have a normal X chromosome that is abnormally inactivated. The odds of either of these two scenarios are so low that X-linked recessive diseases are sometimes referred to as male only diseases.
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