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.
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.
Ballabio
A
A
Dipartimento di Pediatria, Università di Reggio Calabria, Napoli, Italy.
Zollo
M
M
Carrozzo
R
R
Caiulo
A
A
Zuffardi
O
O
Cascioli
C F
CF
Viggiano
D
D
Strisciuglio
P
P
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*
D001192:Arylsulfatases; D043266:Steryl-Sulfatase