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X-linked ichthyosis due to steroid sulfatase deficiency associated with hypogonadism and anosmia

โœ Scribed by G. Andria; A. Ballabio; G. Parenti

Book ID
101467328
Publisher
John Wiley and Sons
Year
1987
Tongue
English
Weight
129 KB
Volume
22
Category
Article
ISSN
0364-5134

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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
โœ A. Ballabio; G. Parenti; P. Tippett; C. Mondello; S. Maio; A. Tenore; G. Andria ๐Ÿ“‚ Article ๐Ÿ“… 1986 ๐Ÿ› Springer ๐ŸŒ English โš– 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,

Deletion of the distal short arm of the
Deletion of the distal short arm of the X chromosome (Xp) in a patient with short stature, chondrodysplasia punctata, and X-linked ichthyosis due to steroid sulfatase deficiency
โœ Ballabio, A. ;Zollo, M. ;Carrozzo, R. ;Caiulo, A. ;Zuffardi, O. ;Cascioli, C. F. ๐Ÿ“‚ Article ๐Ÿ“… 1991 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 397 KB ๐Ÿ‘ 2 views

## Abstract We observed a boy with short stature, chondrodysplasia punctata, ichthyosis, and a terminal deletion of Xp. Steroid sulfatase deficiency was demonstrated in the patient's fibroblasts. Molecular analysis showed a deletion of the entire steroid sulfatase gene. This case represents another