title: 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.
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 example of a contiguous gene syndrome in which the co-deletion of adjacent genes on a chromosome is responsible for a complex phenotype.
authors.affiliation: Dipartimento di Pediatria, Università di Reggio Calabria, Napoli, Italy.
authors.forename: A
authors.initials: A
authors.lastname: Ballabio
authors.forename: M
authors.initials: M
authors.lastname: Zollo
authors.forename: R
authors.initials: R
authors.lastname: Carrozzo
authors.forename: A
authors.initials: A
authors.lastname: Caiulo
authors.forename: O
authors.initials: O
authors.lastname: Zuffardi
authors.forename: C F
authors.initials: CF
authors.lastname: Cascioli
authors.forename: D
authors.initials: D
authors.lastname: Viggiano
authors.forename: P
authors.initials: P
authors.lastname: Strisciuglio
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D001192:Arylsulfatases / Q000172:deficiency* / Q000235:genetics; D002806:Chondrodysplasia Punctata / Q000235:genetics*; D002872:Chromosome Deletion; D004392:Dwarfism / Q000235:genetics*; D006801:Humans; D007057:Ichthyosis / Q000235:genetics*; D007231:Infant, Newborn; D008297:Male; D010641:Phenotype; D012729:Sex Chromosome Aberrations / Q000201:enzymology / Q000235:genetics* / Q000473:pathology; D043266:Steryl-Sulfatase; D014960:X Chromosome / Q000648:ultrastructure*
chemical_list: D001192:Arylsulfatases; D043266:Steryl-Sulfatase