A family with the Coffin Lowry syndrome revisited: Localization of CLS to Xp21‐pter
- 1 May 1988
- journal article
- case report
- Published by Wiley in American Journal of Medical Genetics
- Vol. 30 (1-2) , 509-521
- https://doi.org/10.1002/ajmg.1320300153
Abstract
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 (θ = 0.001, Z = 2.71). Such linkage is reinforced by positive lod scores for DXS28 (θ = 0.00, Z = 0.90) and for DXS84 (θ = 0.09, Z = 1.56). Recombination with DXS84 and DXS164 places CLS distal to DMD in Xp21–pter.Keywords
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