List of NICC Extended Microdeletions

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List of NICC Extended Microdeletions NICC Pregnancy Health


Appendix: NICC® Extended - Supplementary Sheet

NICC® Extended provides comprehensive screening for chromosomes 21, 18, 13, 9, 16, 22, X & Y, 80+ microdeletion/duplication syndromes and other numerical chromosomal aneuploidies in the 23 chromosomes. The 80+ microdeletions/duplication syndromes tested by NICC® Extended are listed in the table below. Should any of these conditions is detected it will be reported under: Other findings include microdeletion/duplication syndrome and incidental finding.

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Location Suspected Disease Size
7q Chromosome 7q deletion 99.2
18q Chromosome 18q deletion syndrome 60.9
9p Chromosome 9p deletion syndrome 49
14q11-q22 Chromosome 14q11-q22 deletion syndrome 40.5
1p36 Chromosome 1p36 deletion syndrome 28
6q11-q14 Chromosome 6q11-q14 deletion syndrome 27
8q12.2-q21.2 Chromosome 8q12.1-q21.2 deletion syndrome 25.3
Xq21 Chromosome Xq21 deletion syndrome 22.3
1q41-q42 Chromosome 1q41-q42 deletion syndrome 22.1
6q24-q25 Chromosome 6q24-q25 deletion syndrome 22
3q22-q24 Dandy-Walker syndrome 19.7
18p Chromosome 18p deletion syndrome 17.2
10q26 Chromosome 10q26 deletion syndrome 16.4
3pter-p25 Chromosome 3pter-p25 deletion syndrome 16.4
2p12-p11.2 Chromosome 2p12-p11.2 deletion syndrome 15.5
5q14.3-q15 Chromosome 5q14.3 deletion syndrome 15.4
13q14 Chromosome 13q14 deletion syndrome 15.2
10q23 Chromosome 10q22.3-q23.2 deletion syndrome 15
15q26-qter Levy-Shanske syndrome 13.4
15q26-qter Chromosome 15q26-qter deletion syndrome 13.4
2q31 Split-hand/foot malformation 5 13.3
6pter-p24 Chromosome 6pter-p24 deletion syndrome 13.4
Xq27.3-q28 Chromosome Xq27.3-q28 duplication syndrome 13.2
2q37.1-q37.3 Holoprosencephaly 6 13.1
Xp21 Chromosome Xp21 deletion syndrome 12.7
5p Cri du Chat syndrome 12.5
11p13-p12 WAGRO syndrome 12.5
4q21 Chromosome 4q21 deletion syndrome 11.7
17p12-p11.2 Yuan-Harel-Lupski syndrome 11.5
22q11 Cat-Eye syndrome 11.2
11q23 Jacobsen syndrome 10.8
10p14-p13 DiGeorge syndrome 2 10.7
8q24.11-q24.13 Langer-Giedion syndrome 9.6
2p16.1-p15 Chromosome 2p16.1-p15 deletion syndrome 9.1
4q32.1-q32.2 Chromosome 4q32.1-q32.2 triplication syndrome 8.9
16p12.2-p11.2 Chromosome 16p12.2-p11.2 deletion syndrome 8.7
Xp11.23-p11.22 Chromosome Xp11.23-p11.22 duplication syndrome 8.4
2q31.1 Chromosome 2q31.1 duplication syndrome 8.3
2q33.1 Chromosome 2q33.1 deletion syndrome 8.3
Xq28 Chromosome Xq28 deletion syndrome 8.2
22q11.2 Chromosome 22q11.2 duplication syndrome 8
16pter-p13.3 Chromosome 16p deletion syndrome 7.9
16p13.3 Chromosome 16p13.3 deletion syndrome 7.9
16p12.2-p11.2 Chromosome 16p11.2-p12.2 microduplication syndrome 7.8
5q12 Chromosome 5q12 deletion syndrome  
1p32-p31 Chromosome 1p32-p31 deletion syndrome 7.6
1p31.3 Chromosome 1p31 duplication syndrome 7.6
16q22 Chromosome 16q22 deletion syndrome 7.4
14q22.1-q22.3 Frias syndrome 7.2
15q11 Chromosome 15q11-q13 duplication syndrome 6.7
6q27 CHDM 6.6
15q14 Chromosome 15q14 deletion syndrome 6.5
17q12 Chromosome 17q12 duplication syndrome 6.3
17q12 Chromosome 17q12 deletion syndrome 6.3
3q29 Chromosome 3q29 duplication syndrome 5.7
3q29 Chromosome 3q29 deletion syndrome 5.7
8q22.1 Chromosome 8q22.1 duplication syndrome 5.7
8q22.1 Chromosome 8q22.1 deletion syndrome 5.7
15q11.2 Prader-Will/Angelman syndrome 5.7
21q22.3 Holoprosencephaly 1 5.5
11p13 WAGR syndrome 5.4
7q11.23 Chromosome 7q11.23 deletion syndrome 5.3
7q11.23 Chromosome 7q11.23 duplication syndrome 5.3
11p11.2 Potocki-Shaffer syndrome 5.3
15q26.1 HCD 5.2
Xq22.3 Chromosome Xq22.3 telomeric deletion syndrome 5
4p16.3 Wolf-Hirschhorn syndrome 4.5
17q21.31 Chromosome 17q21.31 duplication syndrome 4
Xp11.3 Chromosome Xp11.3 deletion syndrome 4
3q13.31 Chromosome 3q13.31 deletion syndrome 3.8
8p23.1 Chromosome 8p23.1 deletion syndrome 3.7
8p23.1 Chromosome 8p23.1 duplication syndrome 3.7
12q14 Chromosome 12q14 microdeletion syndrome 3.6
17q23.1-q23.2 Chromosome 17q23.1-q23.2 deletion syndrome 3.5
17p11.2 Potocki-Lupski syndrome 3.4
17p11.2 Smith-Magenis syndrome 3.4
17p13.3 Chromosome 17p13.3 duplication syndrome 3.3
17p13.3 Chromosome 17p13.3 deletion syndrome 3.3
19q13.11 Chromosome 19q13.11 deletion syndrome 3.1
2q34-q36 Chromosome 2q35 duplication syndrome 22
15q25 Chromosome 15q25 deletion syndrome 10
22q11.2 Chromosome 22q11.2 deletion syndrome 8
22q11.21 DiGeorge syndrome 2.4
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