NIFTY Pro – Lista opțiunilor de testare

Trisomii Trisomies

- Trisomia 21 (Sindromul Down), Trisomia 18 (Sindromul Edwards), Trisomia 13, Sindromul Patau), Trisomia 9, Trisomia 16, Trisomia 22

Aneuploidii ale cromozomilor de sex Sex Chromosome Aneuploidies

- Monosomia X (Sindromul Turner), XXY ( Sindromul Klinefelter), XXX, XYY

Identificarea sexului genetic Gender Identification

- Pentru sarcini gemelare informații privind prezența cromozomului Y For twin pregnancy information regarding Y chromosome)

Lista sindroamelor de microdeleție/duplicație List of microdeletion / duplication syndromes

Size Location Suspected disease Reference Size Location Suspected disease Referinte/Reference
99.2 7q Chromosome 7q deletion 252270 7.9 16p13.3 Chromosome 16p13.3 deletion syndrome 600273
Chromosome 16p11.2-p12.2 microduplication
60.9 18q Chromosome 18q deletion syndrome 601808 7.8 16p12.2-p11.2 https://decipher.sanger.ac.uk/syndrome/96#overview
syndrome
49.0 9p Chromosome 9p deletion syndrome 158170 7.8 5q12 Chromosome 5q12 deletion syndrome 615668
40.5 14q11-q22 Chromosome 14q11-q22 deletion syndrome 613457 7.6 1p32-p31 Chromosome 1p32-p31 deletion syndrome 613735
28.0 1p36 Chromosome 1p36 deletion syndrome 607872 7.6 1p31.3 Chromosome 1p31 duplication syndrome 164750
27.0 6q11-q14 Chromosome 6q11-q14 deletion syndrome 613544 7.4 16q22 Chromosome 16q22 deletion syndrome 614541
25.3 8q12.2-q21.2 Chromosome 8q12.1-q21.2 deletion syndrome 600257 7.2 14q22.1-q22.3 Frias syndrome 609640
22.3 Xq21 Chromosome Xq21 deletion syndrome 303110 6.7 15q11 Chromosome 15q11-q13 duplication syndrome 608636
22.1 1q41-q42 Chromosome 1q41-q42 deletion syndrome 612530 6.6 6q27 CHDM 215400
22.0 6q24-q25 Chromosome 6q24-q25 deletion syndrome 612863 6.5 15q14 Chromosome 15q14 deletion syndrome 616898
19.7 3q22-q24 Dandy-Walker syndrome 220200 6.3 17q12 Chromosome 17q12 duplication syndrome 614526
17.2 18p Chromosome 18p deletion syndrome 146390 6.3 17q12 Chromosome 17q12 deletion syndrome 614527

16.4 10q26 Chromosome 10q26 deletion syndrome 609625 5.7 3q29 Chromosome 3q29 duplication syndrome 611936
16.4 3pter-p25 Chromosome 3pter-p25 deletion Syndrome 613792 5.7 3q29 Chromosome 3q29 deletion syndrome 609425
15.5 2p12-p11.2 Chromosome 2p12-p11.2 deletion syndrome 613564 5.7 8q22.1 Chromosome 8q22.1 duplication syndrome 151200

15.4 5q14.3-q15 Chromosome 5q14.3 deletion syndrome 612881 5.7 8q22.1 Chromosome 8q22.1 deletion syndrome 608156
15.2 13q14 Chromosome 13q14 deletion syndrome 613884 5.7 15q11.2 Prader-Will/Angelman syndrome 176270/105830
15.0 10q23 Chromosome 10q22.3-q23.2 deletion syndrome 612242 5.5 21q22.3 Holoprosencephaly 1 236100

13.4 15q26-qter Levy-Shanske syndrome 614846 5.4 11p13 WAGR syndrome 194072
13.4 15q26-qter Chromosome 15q26-qter deletion syndrome 612626 5.3 7q11.23 Chromosome 7q11.23 deletion syndrome 613729
13.4 6pter-p24 Chromosome 6pter-p24 deletion syndrome 612582 5.3 7q11.23 Chromosome 7q11.23 duplication syndrome 609757
13.3 2q31 Split-hand/foot malformation 5 606708 5.3 11p11.2 Potocki-Shaffer syndrome 601224
13.2 Xq27.3-q28 Chromosome Xq27.3-q28 duplication syndrome 300869 5.2 15q26.1 HCD 142340
13.1 2q37.1-q37.3 Holoprosencephaly 6 605934 5.0 Xq22.3 Chromosome Xq22.3 telomeric deletion syndrome 300194
12.7 Xp21 Chromosome Xp21 deletion syndrome 300679 4.5 4p16.3 Wolf-Hirschhorn syndrome 194190
12.5 5p Cri du Chat syndrome 123450 4.0 17q21.31 Chromosome 17q21.31 duplication syndrome 613533
12.5 11p13-p12 WAGRO syndrome 612469 4.0 Xp11.3 Chromosome Xp11.3 deletion syndrome 300578
11.7 4q21 Chromosome 4q21 deletion syndrome 613509 3.8 3q13.31 Chromosome 3q13.31 deletion syndrome 615433
11.5 17p12-p11.2 Yuan-Harel-Lupski syndrome 616652 3.7 8p23.1 Chromosome 8p23.1 deletion syndrome https://decipher.sanger.ac.uk/syndrome/39#overview
11.2 22q11 Cat-Eye syndrome 115470 3.7 8p23.1 Chromosome 8p23.1 duplication syndrome https://decipher.sanger.ac.uk/syndrome/85#overview

10.8 11q23 Jacobsen syndrome 147791 3.6 12q14 Chromosome 12q14 microdeletion syndrome https://decipher.sanger.ac.uk/syndrome/76#overview
10.7 10p14-p13 DiGeorge syndrome 2 601362 3.5 17q23.1-q23.2 Chromosome 17q23.1-q23.2 deletion syndrome 613355
9.6 8q24.11-q24.13 Langer-Giedion syndrome 150230 3.4 17p11.2 Potocki-Lupski syndrome 610883

9.1 2p16.1-p15 Chromosome 2p16.1-p15 deletion syndrome 612513 3.4 17p11.2 Smith-Magenis syndrome 182290
8.9 4q32.1-q32.2 Chromosome 4q32.1-q32.2 triplication syndrome 613603 3.3 17p13.3 Chromosome 17p13.3 duplication syndrome 613215
8.7 16p12.2-p11.2 Chromosome 16p12.2-p11.2 deletion syndrome 613604 3.3 17p13.3 Chromosome 17p13.3 deletion syndrome 247200

8.4 Xp11.23-p11.22 Chromosome Xp11.23-p11.22 duplication syndrome 300801 3.1 19q13.11 Chromosome 19q13.11 deletion syndrome 617219
8.3 2q31.1 Chromosome 2q31.1 duplication syndrome 613681 22.0 2q34-q36 Chromosome 2q35 duplication syndrome 185900
8.3 2q33.1 Chromosome 2q33.1 deletion syndrome 612313 10.8 15q25 Chromosome 15q25 deletion syndorme 614294

8.2 Xq28 Chromosome Xq28 deletion syndrome 300845 8.0 22q11.2 Chromosome 22q11.2 deletion syndrome 611867
8.0 22q11.2 Chromosome 22q11.2 duplication syndrome 608363 2.4 22q11.21 DiGeorge syndrome 188400
7.9 16pter-p13.3 Chromosome 16p deletion syndrome 141750

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