PURPOSE: To report a patient with a phenotype suggestive of Gillespie syndrome and with a chromosomal abnormality. METHODS: Clinical evaluation showed bilateral superior coloboma, foveal hypoplasia, and inferior cerebellar hypoplasia. Karyotyping as well as investigation of the PAX6 gene were performed. RESULTS: The karyotype of the patient disclosed a de novo translocation t(X;11)(p22.32;p12). Fluorescent in situ hybridization and the search for mutations excluded direct implication of the PAX6 gene. CONCLUSION: This is, to our knowledge, the first report of a chromosomal abnormality detected in a patient with a Gillespie syndrome phenotype.
PURPOSE: To report a patient with a phenotype suggestive of Gillespie syndrome and with a chromosomal abnormality. METHODS: Clinical evaluation showed bilateral superior coloboma, foveal hypoplasia, and inferior cerebellar hypoplasia. Karyotyping as well as investigation of the PAX6 gene were performed. RESULTS: The karyotype of the patient disclosed a de novo translocation t(X;11)(p22.32;p12). Fluorescent in situ hybridization and the search for mutations excluded direct implication of the PAX6 gene. CONCLUSION: This is, to our knowledge, the first report of a chromosomal abnormality detected in a patient with a Gillespie syndrome phenotype.
Authors: Hyung-Goo Kim; Hyun-Taek Kim; Natalia T Leach; Fei Lan; Reinhard Ullmann; Asli Silahtaroglu; Ingo Kurth; Anja Nowka; Ihn Sik Seong; Yiping Shen; Michael E Talkowski; Douglas Ruderfer; Ji-Hyun Lee; Caron Glotzbach; Kyungsoo Ha; Susanne Kjaergaard; Alex V Levin; Bernd F Romeike; Tjitske Kleefstra; Oliver Bartsch; Sarah H Elsea; Ethylin Wang Jabs; Marcy E MacDonald; David J Harris; Bradley J Quade; Hans-Hilger Ropers; Lisa G Shaffer; Kerstin Kutsche; Lawrence C Layman; Niels Tommerup; Vera M Kalscheuer; Yang Shi; Cynthia C Morton; Cheol-Hee Kim; James F Gusella Journal: Am J Hum Genet Date: 2012-07-05 Impact factor: 11.025
Authors: Morad Ansari; Jacqueline Rainger; Isabel M Hanson; Kathleen A Williamson; Freddie Sharkey; Louise Harewood; Angela Sandilands; Jill Clayton-Smith; Helene Dollfus; Pierre Bitoun; Francoise Meire; Judy Fantes; Brunella Franco; Birgit Lorenz; David S Taylor; Fiona Stewart; Colin E Willoughby; Meriel McEntagart; Peng Tee Khaw; Carol Clericuzio; Lionel Van Maldergem; Denise Williams; Ruth Newbury-Ecob; Elias I Traboulsi; Eduardo D Silva; Mukhlis M Madlom; David R Goudie; Brian W Fleck; Dagmar Wieczorek; Juergen Kohlhase; Alice D McTrusty; Carol Gardiner; Christopher Yale; Anthony T Moore; Isabelle Russell-Eggitt; Lily Islam; Melissa Lees; Philip L Beales; Stephen J Tuft; Juan B Solano; Miranda Splitt; Jens Michael Hertz; Trine E Prescott; Deborah J Shears; Ken K Nischal; Martine Doco-Fenzy; Fabienne Prieur; I Karen Temple; Katherine L Lachlan; Giuseppe Damante; Danny A Morrison; Veronica van Heyningen; David R FitzPatrick Journal: PLoS One Date: 2016-04-28 Impact factor: 3.240