Refined Mapping and YAC Contig Construction of the X-Linked Cleft Palate and Ankyloglossia Locus (CPX) Including the Proximal X–Y Homology Breakpoint within Xq21.3

X chromosome map at 75-kb STS resolution, revealing extremes of recombination and GC content.

“…The current 13 contigs, with their bracketing markers, index positions roughly in megabases, and relevant references to some of the significant partial published versions (in addition to Schlessinger et al 1991 andNelson et al 1995), are as follows, from Xpter to Xqter: Xpter-DXS6667 (0-52 Mb; Coffey et al 1992; Monaco et al 1992;Alitalo et al 1995;Black et al 1995;Ferrero et al 1995;Ried et al 1995;Trump et al 1996; Boycott et al 1996); OATL2-centromere (52-58.5 Mb;Miller et al 1995); centromere; DXS62-DXS1 (62-63 Mb); DXS1-DXS1225 (63-79 Mb; Villard et al 1995);DXS447-DXS26 (79-84 Mb;van der Maarel et al 1995);DXS995-TBG (84-106 Mb;Vetrie et al 1994;Forbes et al 1996, Sargent et al 1996; DXS7667-COL4A5 (107-109.5 Mb;Srivastava et al 1995); DXS1210-DXS287 (109.5-113 Mb); DXS1059-DXS8088 (113-118.5 Mb); DXS7308-DXS7872 (118.5-120 Mb); ANT2-DXS7317 (120-124 Mb); DXS8081-DXS1206 (124-131 Mb); and DXS1339-Xqter (131-160 Mb; Palmieri et al 1994;Rogner et al 1994; Pilia et al 1996; Zucchi et al 1996).…”

X-linked mental retardation associated with cleft lip/palate maps to Xp11.3-q21.3

“…The first is Aarskog-Scott syndrome, which maps to Xp11.22 and is characterized by short stature, brachydactyly, hypertelorism, shawl scrotum, mental retardation in about 1/3 of cases, and, occasionally, cleft lip/palate. Cleft palate with ankyloglossia maps to Xq21 [Moore et al, 1987;Forbes et al, 1996], ATR-X to Xq13.3 with mutations in the XNP-gene [Gibbons et al, 1995] and the syndrome described by Hamel et al [1994] is provision- ally assigned to Xp21.3-q21.3. These three syndromes involve cleft palate without cleft lip, and the latter two also have MR.…”

Integrated STS/YAC Physical, Genetic, and Transcript Map of Human Xq21.3 to q23/q24 (DXS1203–DXS1059)

“…This single contig merges with a series of published maps to provide essentially complete coverage of the 100 Mb of Xq: in detail, the overlapping contigs from Xqter, 6.5 Mb of Xq28 (Palmieri et al, 1993), 12 Mb of Xq27 (Zucchi et al, 1996), 9.0 Mb of Xq26 , 22.5 Mb of Xq26 -q24 , 20 Mb of Xq q23/q24 -q21.3 reported here; 4.0 Mb of Xq21.3 (DXS3 to XY homology region, Mumm et al, 1997), 3.0 Mb in Xq21.2-q21.3 (Forbes et al, 1996), 22 Mb spanning Xq21.3-q13 (Mumm et al, 1998), and a 1.5-Mb contig between that point and the centromere (Schuler et al, in preparation). A recently published map by Coffey et al (1998) also fills one of five small gaps that had remained in Xq24 -q26.1 .…”