Table 2 Target Diseases of MacArray™ M-chip
From: Application of a target array Comparative Genomic Hybridization to prenatal diagnosis
Type | Disease | Chromosomal Location | Gene/marker |
|---|---|---|---|
Microdeletion & Duplication | ALAGILLE SYNDROME | 20p12 | JAG1, MKKS, SHGC-79896 |
ANGELMAN SYNDROME | 15q11-q13 | UBE3A | |
CRI-DU-CHAT SYNDROME | 5p15.2 | TERT | |
DIGEORGE SYNDROME | 22q11.2 | TBX1 | |
GLYCEROL KINASE DEFICIENCY | Xp21.3-p21.2 | GK | |
KALLMANN SYNDROME 1 | Xp22.3 | KAL | |
MILLER-DIEKER LISSENCEPHALY SYNDROME | 17p13.3 | LIS1 | |
MONOSOMY 1p36 SYNDROME | 1p36.33 | CDC2L1 | |
MUSCULAR DYSTROPHY, DUCHENNE TYPE | Xp21.2, 12q21 | DMD | |
NEUROFIBROMATOSIS, TYPE I | 17q11.2 | NF1 | |
NEUROFIBROMATOSIS, TYPE II | 22q12.2 | NF2 | |
PRADER-WILLI SYNDROME | 15q11-15q13 | SNRPN | |
SEX-DETERMINING REGION Y | Yp11.3 | SRY | |
SMITH-MAGENIS SYNDROME | 17p11.2 | RAI1 | |
SOTOS SYNDROME | 5q35 | NSD1 | |
SPERMATOGENIC FAILURE, NONOBSTRUCTIVE, Y-LINKED | Yq11.23 | DAZ | |
STEROID SULFATASE DEFICIENCY DISEASE | Xp22.31 | - | |
WILLIAMS-BEUREN SYNDROME | 7q11.2 | LIMK1 | |
WOLF-HIRSCHHORN SYNDROME | 4p16.3 | WHSC1 | |
Aneuploidy | Trisomy 13 | 13q12.11~13q33.3 | - |
Trisomy 18 | 18p11.32~18q22.3 | - | |
Trisomy 21 | 21q11.2~21q22.3 | - | |
Abnormal X (X) | Xp11.3~Xq28 | - | |
Abnormal X (XXY) | Xp11.3~Xq28 | - | |
Abnormal X (XXX) | Xp11.3~Xq28 | - | |
Abnormal Y (XYY) | Yp11.2~Yq11.23 | - |