Renpenning Syndrome Maps to Xp11

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Renpenning Syndrome Maps to Xp11 Roger E. Stevenson, J. Fernando Arena, Elizabeth Ouzts, Alice Gibson, M.H.K. Shokeir, Cindy Vnencak-Jones, Herbert A. Lubs, M. May, Charles E. Schwartz The American Journal of Human Genetics Volume 62, Issue 5, Pages 1092-1101 (May 1998) DOI: 10.1086/301835 Copyright © 1998 The American Society of Human Genetics Terms and Conditions

Figure 1 Partial pedigree for kindred 8110. Bars over pedigree symbols denote individuals evaluated in the current study; asterisks above pedigree symbols denote individuals for whom fixed tissues were available. The American Journal of Human Genetics 1998 62, 1092-1101DOI: (10.1086/301835) Copyright © 1998 The American Society of Human Genetics Terms and Conditions

Figure 2 Frontal facial views of, from left to right, IV-11 at age 66 years, showing microcephaly, central balding, and up-slanting palpebral fissures; V-4 at age 40 years, showing microcephaly, central balding, up-slanting palpebral fissures, and short philtrum; and V-15 at age 55 years, showing squarish facial configuration, short philtrum, and everted lower lip. The American Journal of Human Genetics 1998 62, 1092-1101DOI: (10.1086/301835) Copyright © 1998 The American Society of Human Genetics Terms and Conditions

Figure 3 Haplotype for markers in Xp11-p21. The boxed haplotype segregates with mental retardation. Studies of III-3 and IV-12 used fixed tissues. The American Journal of Human Genetics 1998 62, 1092-1101DOI: (10.1086/301835) Copyright © 1998 The American Society of Human Genetics Terms and Conditions

Figure 4 LOD score of linkage of the RENS1 locus, multipoint analysis vs. markers in Xp11.2-p21. The genetic distances, calculated as described in the Subjects and Methods section, were based on the following recombination frequencies: DXS1068–.025–DXS8015–.07–DXS8012–.35–MAOA–.01–DXS8035–.065–DXS1003–.055–DXS255–.01–DXS1039. The multipoint LOD-score values correspond to location scores divided by 4.6. The American Journal of Human Genetics 1998 62, 1092-1101DOI: (10.1086/301835) Copyright © 1998 The American Society of Human Genetics Terms and Conditions

Figure 5 Idiogram of Xp11.2-p21.1, showing linkage limits for RENS1 and for Sutherland-Haan, Wilson-Turner, West, Hamel, and Prieto syndromes and for 23 families with nonsyndromal XLMR (Claes et al., in press; Hamel et al. in press-a, in press-b;Lubs et al., in press). The megabase marker is according to the study by Nelson et al. (1995). The American Journal of Human Genetics 1998 62, 1092-1101DOI: (10.1086/301835) Copyright © 1998 The American Society of Human Genetics Terms and Conditions