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Am J Med Genet. 1988 May-Jun;30(1-2):509-21.

A family with the Coffin Lowry syndrome revisited: localization of CLS to Xp21-pter.

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Department of Medical Genetics, Prince of Wales Children's Hospital, Randwick, New South Wales, Australia.


We revisited a family with the Coffin-Lowry syndrome (CLS) first reported by Procopis and Turner in 1972. Twelve affected members are now known in 3 generations of which 9 were seen personally. DNA marker studies supported X-linkage with localization of CLS to Xp near DXS43 at p22.2-22.1 (theta = 0.001 Z = 2.71). Such linkage is reinforced by positive lod scores for DXS28 (theta = 0.00, Z = 0.90) and for DXS84 (theta = 0.09, Z = 1.56). Recombination with DXS84 and DXS164 places CLS distal to DMD in Xp21-pter.

[Indexed for MEDLINE]

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