PURPOSE: Development of a molecular PGD protocol for a male with an X-linked deletion in the SHOX gene region, located in the pseudoautosomal region of the X/Y chromosomes. Due to excessive recombination in this region, the deletion can be found in male offspring. METHODS: We developed a 13 marker multiplex fluorescent PCR protocol: 3 markers within the deleted SHOX region, 5 flanking markers, 3 informative markers on chromosome 21 (advanced maternal age) and 2 markers for sex determination. RESULTS: Of four embryos, two wild type males, diploid for chromosome 21 were transferred resulting in twin boys. One embryo was an affected female and another embryo was Turner. Amniocentesis confirmed the implanted embryos were males (46XY), with no recombinations. CONCLUSIONS: While many X-linked disorders can be analyzed by sexing, genes located in the pseudoautosomal regions have high XY recombination rates, requiring multiple markers to enable an accurate diagnosis.
PURPOSE: Development of a molecular PGD protocol for a male with an X-linked deletion in the SHOX gene region, located in the pseudoautosomal region of the X/Y chromosomes. Due to excessive recombination in this region, the deletion can be found in male offspring. METHODS: We developed a 13 marker multiplex fluorescent PCR protocol: 3 markers within the deleted SHOX region, 5 flanking markers, 3 informative markers on chromosome 21 (advanced maternal age) and 2 markers for sex determination. RESULTS: Of four embryos, two wild type males, diploid for chromosome 21 were transferred resulting in twin boys. One embryo was an affected female and another embryo was Turner. Amniocentesis confirmed the implanted embryos were males (46XY), with no recombinations. CONCLUSIONS: While many X-linked disorders can be analyzed by sexing, genes located in the pseudoautosomal regions have high XY recombination rates, requiring multiple markers to enable an accurate diagnosis.
Authors: D Karolchik; R Baertsch; M Diekhans; T S Furey; A Hinrichs; Y T Lu; K M Roskin; M Schwartz; C W Sugnet; D J Thomas; R J Weber; D Haussler; W J Kent Journal: Nucleic Acids Res Date: 2003-01-01 Impact factor: 16.971
Authors: Yury Verlinsky; Jacques Cohen; Santiago Munne; Luca Gianaroli; Joe Leigh Simpson; Anna Pia Ferraretti; Anver Kuliev Journal: Fertil Steril Date: 2004-08 Impact factor: 7.329
Authors: T Kosho; K Muroya; T Nagai; M Fujimoto; S Yokoya; H Sakamoto; T Hirano; H Terasaki; H Ohashi; G Nishimura; S Sato; N Matsuo; T Ogata Journal: J Clin Endocrinol Metab Date: 1999-12 Impact factor: 5.958
Authors: Y Verlinsky; S Rechitsky; O Verlinsky; D Kenigsberg; J Moshella; V Ivakhnenko; C Masciangelo; C Strom; A Kuliev Journal: Reprod Biomed Online Date: 2002 Jan-Feb Impact factor: 3.828
Authors: Gerhard Binder; Alexandra Renz; Alicia Martinez; Ana Keselman; Volker Hesse; Stefan W Riedl; Gabriele Häusler; Susanne Fricke-Otto; Herwig Frisch; Juan Jorge Heinrich; Michael B Ranke Journal: J Clin Endocrinol Metab Date: 2004-09 Impact factor: 5.958