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Kromozomal Anoploidiler

Down Sendromu (Trizomi 21)

Edwards Sendromu (Trizomi 18)

Patau Sendromu (Trizomi 13)

Klinifelter Sendromu (47,XXY)

Triple X Sendromu (47,XXX)

Jacob Sendromu(47,XYY)

Turner Sendromu (45,X)

Tüm Kromozomal Trizomiler                                                                    

Büyük DelseyonDuplikasyon Sendromları (>10MB)                               

Partial monosomy 1p

Monosomy 1q21→q32

Monosomy 1q42→qter

Trisomy 1q23→qter

Partial monosomy 2p

Partial trisomy 2p

Partial monosomy 2q

Partial trisomy 2q

Monosomy 3p11→p21

Monosomy 3p25→pter

Partial trisomy 3p

Partial monosomy 3q

Partial trisomy 3q

Partial monosomy3p and partial trisomy 3q

Partial monosomy 4p

Partial trisomy 4p

Monosomy 4q21 →q31

Monosomy 4q31 →qter

Partial trisomy 4q

Partial monosomy 4p and partial trisomy 4q

Partial trisomy 5p

Partial monosomy 5q

Partial trisomy 5q

Partial trisomy 6p

Partial monosomy 6q

Partial trisomy 6q

Partial monosomy 7p

Partial trisomy 7p

monosomy 7q32 →qter

monosomy 7q32 →qter

Trisomy 7q21 →q31

Trisomy 7q32 →qter

Partial trisomy 8q

Partial monosomy 9p

Partial trisomy 9p

Partial monosomy 9q

Partial trisomy 9q

Partial monosomy 10p

Partial trisomy 10p

Partial monosomy 10q

Partial trisomy 10q

Partial trisomy 11p

Partial monosomy 11q

Partial trisomy 11q

Partial monosomy 12p

Partial trisomy 12p

Partial trisomy 12q

Monosomy 13q14

Monosomy 13q21→qter

Trisomy 13cen→q14

Trisomy 13q21→qter

Partial trisomy 14

Trisomy 14q24-qter

supernumerary inv dup (15)

Trisomy 15q22→qter

Partial trisomy 16p

Partial monosomy 16q

Partial trisomy 16q

Trisomy 17pter→q21

Partial monosomy 18p

Partial tetrasomy 18p

Trisomy 18pter→q12

Monosomy 18q21→qter

Trisomy 18q12→qter

Partial monosomy 20p

Trisomy 20p

Partial monosomy 21

Mikrodelesyon/Mikroduplikasyon Sendromları (> 5 Mb)

1p36 deletion syndrome

2p16.1-p15 deletion syndrome

2q33.1 deletion syndrome

2q37 deletion syndrome

3p deletion syndrome

4p16.31 deletion syndrome

Cri-du-chat syndrome

7q11.2 deletion syndrome

Langer-Giedion syndrome

8p23.1 deletion syndrome

8p23.1 duplication syndrome

11q23.3-q25 deletion syndrome

Angelman syndrome

Prader–Willi syndrome

15q26 duplication syndrome

16p12.2 microdeletion syndrome

17p13.3 deletion syndrome

Smith-Magenis syndrome

Potocki-Lupski syndrome

22q11.2 deletion syndrome