Genetic complementation of steroid sulphatase after somatic cell hybridization of X-linked ichthyosis and multiple sulphatase deficiency

X-linked ichthyosis, due to steroid sulp

X-linked ichthyosis, due to steroid sulphatase deficiency, associated with Kallmann syndrome (hypogonadotropic hypogonadism and anosmia): linkage relationships with Xg and cloned DNA sequences from the distal short arm of the X chromosome

✍ A. Ballabio; G. Parenti; P. Tippett; C. Mondello; S. Maio; A. Tenore; G. Andria 📂 Article 📅 1986 🏛 Springer 🌐 English ⚖ 486 KB

We report a large Italian pedigree in which five out of six males are affected by a syndrome, following an X-linked inheritance pattern, characterized by ichthyosis, hypogonadotropic hypogonadism, and anosmia. The concurrence of features of X-linked ichthyosis (XLI) with those of Kallmann syndrome,