Coba jelasin Diagnosa dari Sindrom delesi 22q11 dong

Penyakit ini didiagnosa dengan menggunakan teknik pemeriksaan genetika seperti FISH atau fluorescence in situ hybridization dengan DNA probe dari daerah kromosom DiGeorge.

D’Antonio, Linda L.; Scherer, Nancy; Miller, Laura L.; Kalbfleisch, John H.; Bartley, James A. 2000. “Analysis of Speech Characteristics in Children with Velocardiofacial Syndrome (VCFS and Children with Phenotyhpic Overlap without VFCS.” Cleft PalateCraniofacial Journal. September, 39:5, 455-67.

Eliez, D.; Feinstein, C.; Palacio-Espasa, F; Spira, A.;Lacriox, M.;Pont, C.;Luthi, F.; Robert-Tissot, C.; Cramer, B.; Schorderet, D. F.; Antonarakis, S. E. 2000. “Young Children with Velo-Cardio-Facial syndrome (Catch-22). Psychological and language phenotypes.” European Child & Adolescent Psychiatry. 9: 109-1 14.

Gerdes, Marsha; Solot, Cynthia; Wang, Paul; McDonald, McGinn, and Sackai, Elaine H. 2001. “Taking advantage of early diagnosis: Preschool children with the 22q 11.2 deletion.” Genetics in Medicine. January/February, 3:1, 40-4.

Perez, Elena; Sulivan, Kathleen E. 2002. “Chromosome 22q1 1.2 deletion syndrome (DiGeorge and velocardiofacial syndromes).” Current Options in Pediatrics. 14:678-83.

Persson, Christina; Niklasson, Lena; Oskarsdottir, Solveig; Johansson, Susanne; Jonsson, Radi; Soderpalm, Ewa. 2006. “Language skills in 5-8-year-old children with 22q1 1 deletion syndrome.” International Journal of Language & Communication Disorders. 41:3, 3 13-33.

Robin, Nathaniel H.; Shprintzen, Robert J.;2005. “Defining the Clinical Spectrum Spectrum of Deletion 22q11.2”. The Journal of Pediatrics. 147:90-96

Scherer, Nancy J; D’Antonio, Linda L.; Kalbfleisch, John H. 1999. “Early Speech and Language Development in Children With Velocardiofacial Syndrome.” American Journal of Medical Genetics (Neuropsychiatric Genetics). 88: 714-23.

Scherer, Nancy J.; D’Antonio, Linda L.; Rodgers, Jennifer R. 2001. “Profiles of communication disorder in children with velocardiofacial syndrome: Comparison to children with Down syndrome.” Genetics in Medicine. January/February, 3:1, 72-8.

Shprintzen, Robert J.; Higgins, Anne Marie; Antshel, Kevin; Fremont, Wanda; Roizen, Nancy; Kates, Wendy. 2005. “Velo-cardio-facial syndrome.” Current Opinion in Pediatrics. 17:725-730.

Solot, Cynthia B. and Knightly, Carol; Handler, Steven D.; Gerdes, Marsha; McDonald-McGinn, Donna M.; Moss, Edward; Wang, Paul; Cohen, Marilyn; Randall, Peter and Larossa, Don; Driscoll, Deborah A. 2000. “Communication Disorders in the 22Q11 .2 Microdeletion Syndrome.” Journal of Communication disorders. 33: 187-204.