Table 1.
Regions of the genome assayed by the GOLDChip.
| Clinical relevance | Chromosomal region or Karyotype |
|---|---|
| Miller-Dieker lissencephaly syndrome | 17p13.3 |
| Alagille syndrome | 20p12 |
| Muscular dystrophy (Duchenne, Becker) DMD | Xp21.2 |
| ATR-16 | 16pter-p13.3 |
| Nail-Patella syndrome | 9q33.31 |
| Autism, X-linked, susceptibility to, 2, NLGN4 | Xp22.33 |
| Azoospermia factor a (AZFa) | Yq11.2 |
| Azoospermia factor b (AZFb) | Yq11.2 |
| Bruton agammaglobulinemia tyrosine kinase | Xq21.3–q22 |
| Canavan disease (ASPA) | 17pter-p13 |
| Candidate gene for the testis-determining factor (TDF) | Yp11.3 |
| Cat eye syndrome CECR1, CECR5, CECR6 | 22q11 |
| Charcot-Marie-Tooth disease type 1A | 17p11.2 |
| Cornelia de lange syndrome CDLSI | 5p13.1 |
| Cri du chat syndrome | 5p15.2 |
| Dandy-Walker syndrome DWS (ZIC1; ZIC4) | 3q24 |
| DiGeorge syndrome (DGS) | 22q11.2 |
| DiGeorge syndrome critical region 2, | 10p14-p1 |
| Down syndrome 21q22.3 | Xp11.23 |
| Down syndrome critical region, GATA1 | 21q21–21q22.3 |
| Early-onset Alzheimer disease/APP | 21q21 |
| Edwards syndrome | Trisomy 18 |
| Feingold syndrome | 2p24.1 |
| Greig cephalopolysyndactyly syndrome, GLI3 | 7p13 |
| Holoprosencephaly 1 | 21q22.3 |
| Holoprosencephaly 3 | 7q36 |
| Barakat syndrome, GATA3 | 10p |
| Kallmann syndrome 2 (KAL2) | 8p11.2-p11.1 |
| Klinefelter syndrome | XXY |
| Langer giedion type II TRPS2 | 8q24.11–q24.13 |
| Microphthalmia with linear skin defects | Xp22 |
| Beckwith-Wiedemann syndrome | 11p15.5 |
| Brachydactyly-mental retardation syndrome, D2S2338 | 2q37 |
| Neurofibromatosis 1 (NF1) | 17q11.2 |
| Neurofibromatosis 2 (NF2) | 22q12.2 |
| Ovarian dysfunction (FIMIANI; LAPERUTA) | Xq26 |
| Patau syndrome trisomy 13 | Trisomy 13 |
| Pelizaeus-Merzbacher disease | Xq22.2 |
| Potocki-shaffer syndrome | 11p11.2–p12 |
| Prader Willi syndrome/Angelman syndrome | 15q11–q13 |
| Retinoblastoma | 13q14.1–q14.2 |
| Rett syndrome (MECP2) | Xq28 |
| Rieger syndrome type 1 | 4q25 |
| Smith-Magenis syndrome | 17p11.2 |
| Sotos syndrome | 5q35 |
| Split-Hand/Foot Malformation 4 | 3q27 |
| Steroid sulfatase deficiency (STS) | Xp22.31 |
| Synpolydactyly/Syndactyly type II | 2q31–q32 |
| Tuberous sclerosis 2 (TSC2) | 16p13.3 |
| Turner Syndrome | 45, X |
| Van der Woude syndrome | 1q32–q41 |
| Williams syndrome | 7q11.23 |
| Wolf-Hirschhorn candidate 1 (WHSC) | 4p16.3 |
| X-linked lissencephaly | Xq22.3–q23 |
| Leri-Weill syndrome (dischondrosteosis Xp distal deletion SHOX) | Xpter-p22.32 |
| 1p36deletion (monosomy 1p36) | 1p36 |
| 2q37 monosomy | 2q37 |
| Sex reversal deltion 9p | 9p |
| Rubinstein-Taybi | 16p13.3 |
| Saethre-Chotzen Syndrome | 7p21 |
| Sex-determining region, SRY | Yp11.31 |
| Simpson-Golabi-Behmel syndrome | Xq26 |
| Split-Hand/Foot Malformation 3 | 10q24 |
| WAGR syndrome (PAX6) | 11p13 |
| 14q terminal deletion syndrome (van Karnebeek) | 14q |
| Split-Hand/Foot Malformation 5 | 2q31 |