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. |
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Authors: | A Ballabio M Zollo R Carrozzo A Caiulo O Zuffardi C F Cascioli D Viggiano P Strisciuglio |
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Affiliation: | Dipartimento di Pediatria, Università di Reggio Calabria, Napoli, Italy. |
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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. |
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