Notes in 2. Genetic Syndromes

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Name
01_Down’s Syndrome (Trisomy 21)
02_Edward’s Syndrome (Trisomy 18)
03_Patau Syndrome (Trisomy 13)
04_Klinefelter Syndrome (47 XXY)
05_Turner Syndrome (45 XO)
06_Noonan Syndrome (Multiple mutations)
07_Marfan Syndrome (Fibrillin mutation)
08_Fragile X Syndrome (Trinucleotide repeat)
09_Prader-Willi Syndrome (15q11-13 deletion)
10_Angelman Syndrome (15q11-13 deletion)
11_Williams Syndrome (7q11 deletion)
12_DiGeorge Syndrome (22q11 deletion)