List of NICC Extended Microdeletions
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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 | 7.8 |
| 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 |