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

A Ballabio; M Zollo; R Carrozzo; A Caiulo; O Zuffardi; C F Cascioli; D Viggiano; P Strisciuglio

doi:10.1002/ajmg.1320410210

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

Am J Med Genet. 1991 Nov 1;41(2):184-7. doi: 10.1002/ajmg.1320410210.

Authors

A Ballabio¹, M Zollo, R Carrozzo, A Caiulo, O Zuffardi, C F Cascioli, D Viggiano, P Strisciuglio

Affiliation

¹ Dipartimento di Pediatria, Università di Reggio Calabria, Napoli, Italy.

PMID: 1785631
DOI: 10.1002/ajmg.1320410210

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.

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

Abnormalities, Multiple / genetics*
Arylsulfatases / deficiency*
Arylsulfatases / genetics
Chondrodysplasia Punctata / genetics*
Chromosome Deletion*
Dwarfism / genetics*
Humans
Ichthyosis / genetics*
Infant, Newborn
Male
Phenotype
Sex Chromosome Aberrations / enzymology
Sex Chromosome Aberrations / genetics*
Sex Chromosome Aberrations / pathology
Steryl-Sulfatase
X Chromosome / ultrastructure*

Substances

Arylsulfatases
Steryl-Sulfatase