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 excerpt

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...

Topics

• Abnormalities, Multiple
• Arylsulfatases
• Chondrodysplasia Punctata
• Chromosome Deletion
• Dwarfism
• Humans
• Ichthyosis
• Infant, Newborn
• Male
• Phenotype