Sık Görülen Kromozomal Hastalıklar
Özet
Referanslar
Griffiths AJ. An Introduction to Genetic Analysis: WH Freeman and Company; 2005.
Jackson M, Marks L, May GH, Wilson JB. The genetic basis of disease. Essays in biochemistry. 2018;62(5):643-723.
Kannan TP, Zilfalil BA. Cytogenetics: past, present and future. The Malaysian journal of medical sciences: MJMS. 2009;16(2):4.
Pearlson GD, Breiter SN, PhD EHA, Warren AC, Grygorcewicz M, Frangou S, et al. MRI brain changes in subjects with Down syndrome with and without dementia. Developmental Medicine & Child Neurology. 1998;40(5):326-34.
Lott IT. Neurological phenotypes for Down syndrome across the life span. Progress in brain research. 2012;197:101-21.
Asim A, Kumar A, Muthuswamy S, Jain S, Agarwal S. Down syndrome: an insight of the disease. Journal of biomedical science. 2015;22:1-9.
Patau K, Smith D, Therman E, Inhorn S, Wagner H. Multiple congenital anomaly caused by an extra autosome. The lancet. 1960;275(7128):790-3.
Wyllie JP, Wright MJ, Burn J, Hunter S. Natural history of trisomy 13. Archives of disease in childhood. 1994;71(4):343-5.
Edwards JH, Harnden D, Cameron A, Crosse VM, Wolf O. A new trisomic syndrome. The lancet. 1960;275(7128):787-90.
Smith DW, Patau K, Therman E, Inhorn SL. A new autosomal trisomy syndrome: multiple congenital anomalies caused by an extra chromosome. The Journal of pediatrics. 1960;57(3):338-45.
Jacobs PA, Strong JA. A case of human intersexuality having a possible XXY sex-determining mechanism. Nature. 1959;183(4657):302-3.
Bonomi M, Rochira V, Pasquali D, Balercia G, Jannini E, Ferlin A. Klinefelter syndrome (KS): genetics, clinical phenotype and hypogonadism. Journal of endocrinological investigation. 2017;40:123-34.
Kliegman RM, St Geme IIIJW, Blum NJ, Shah SS, Tasker RC, Wil-son KM, et al., editors. Nelson Textbook of Pediatrics. 21st ed.Philadelphia: Elsevier; 2020. p. 3037
Referanslar
Griffiths AJ. An Introduction to Genetic Analysis: WH Freeman and Company; 2005.
Jackson M, Marks L, May GH, Wilson JB. The genetic basis of disease. Essays in biochemistry. 2018;62(5):643-723.
Kannan TP, Zilfalil BA. Cytogenetics: past, present and future. The Malaysian journal of medical sciences: MJMS. 2009;16(2):4.
Pearlson GD, Breiter SN, PhD EHA, Warren AC, Grygorcewicz M, Frangou S, et al. MRI brain changes in subjects with Down syndrome with and without dementia. Developmental Medicine & Child Neurology. 1998;40(5):326-34.
Lott IT. Neurological phenotypes for Down syndrome across the life span. Progress in brain research. 2012;197:101-21.
Asim A, Kumar A, Muthuswamy S, Jain S, Agarwal S. Down syndrome: an insight of the disease. Journal of biomedical science. 2015;22:1-9.
Patau K, Smith D, Therman E, Inhorn S, Wagner H. Multiple congenital anomaly caused by an extra autosome. The lancet. 1960;275(7128):790-3.
Wyllie JP, Wright MJ, Burn J, Hunter S. Natural history of trisomy 13. Archives of disease in childhood. 1994;71(4):343-5.
Edwards JH, Harnden D, Cameron A, Crosse VM, Wolf O. A new trisomic syndrome. The lancet. 1960;275(7128):787-90.
Smith DW, Patau K, Therman E, Inhorn SL. A new autosomal trisomy syndrome: multiple congenital anomalies caused by an extra chromosome. The Journal of pediatrics. 1960;57(3):338-45.
Jacobs PA, Strong JA. A case of human intersexuality having a possible XXY sex-determining mechanism. Nature. 1959;183(4657):302-3.
Bonomi M, Rochira V, Pasquali D, Balercia G, Jannini E, Ferlin A. Klinefelter syndrome (KS): genetics, clinical phenotype and hypogonadism. Journal of endocrinological investigation. 2017;40:123-34.
Kliegman RM, St Geme IIIJW, Blum NJ, Shah SS, Tasker RC, Wil-son KM, et al., editors. Nelson Textbook of Pediatrics. 21st ed.Philadelphia: Elsevier; 2020. p. 3037
