Table 2.
Are shown the 28 disease tested in 47 cytogenetically abnormal DNA by GOLDChip (20 cell lines and 27 clinical samples). For each disease are shown OMIM, frequency, the number of sample analyzed, the gene map locus (or Karyotype if possible), and the gain(+) or loss (−) of DNA. ORPHA: data from ORPHANET Journal of Rare Diseases. nr = not reported. * = ECACC (European Collection of Cell Cultures): cell line name AL0053, catalogue number 97091501; ** = ECACC: cell line name AL0021, catalogue number 92102601; *** = ECACC: cell line name AG0847, catalogue number 94032208; **** = ECACC: cell line name AR0189, catalogue number 99012001.
| Disease | OMIM | Frequency | Cell lines | Clinical samples | Total | Gene map locus or Karyotype | Gain/loss |
|---|---|---|---|---|---|---|---|
| Charcot-Marie-Tooth disease type 1A | 118220 | 1/2.500 | 1 | 1 | 17p11.2 | (+) | |
| Cat eye syndrome | 115470 | 1/5.000 | 1 | 1 | 22q11.2 | (−) | |
| Di George (22q12) Syndrome | 188400 | 1/4.000 | 1 | 2 | 3 | 22q11.2 | (−) |
| Di George (10p) syndrome | 601362 | <1/1.000.000 | 1 | 1 | 10p14–p13 | (−) | |
| Down syndrome | 190685 | 1/1.000 | 2 | 2 | 47,XY,+21 | (+) | |
| Williams syndrome | 194050 | 1/10.000 | 1 | 4 | 5 | 7q11.23 | (−) |
| Smith-Magenis syndrome | 182290 | 1/50.000 | 3 | 3 | 17p11.2 | (−) | |
| Patau syndrome | 1660 | nr | 1 | 1 | 47,XX,+13 | (+) | |
| Duchenne syndrome | 310200 | 1/35.000 | 1 | 1 | Xp21.2 | (−) | |
| Miller-Diecker syndrome | 247200 | 1/25.000 | 1 | 1 | 46,XY.ish del(17) (p13.3p13.3) (D17s379−) |
(−) | |
| XYY | 158250 | 1/900 | 1 | 1 | 47,XYY | (+) | |
| Klinefelter’s syndrome (XXY) | 278850 | nr | 2 | 2 | 47,XXY | (+) | |
| Edwards Syndrome | 601161 | 1/6.000 | 1 | 1 | 47,XY,+18 | (+) | |
| Prader Willi/Angelman syndrome | 600161 | 1/20.000 | 2 | 2 | 15q11–q13 | (−) | |
| Ichthyosis-Mental retardation-Kallmann Syndrome | 30870 | 1–9/100.000 | 1 | 1 | 2 | Xp22.3 | (−) |
| Monosomy 1p36 | 607872 | 1/5.000 | 1 | 2 | 3 | 1p36 | (−) |
| Brachydactyly-Mental retardation syndrome | 600430 | >1/1.000.000 | 1 | 2 | 3 | 2q37 | (−) |
| Cri du Chat syndrome | 123450 | 1/50.000 | 1 | 1 | 2 | 5p15.2–>pter | (−) |
| Del 20p | ORPHA1611 | <1/1.000.000 | 1 | 1 | 2 | 20pter* | (−) |
| Wolf-Hirschhorn syndrome (WHS) | 194190 | 1/50.000 | 1 | 1 | 4p16.3–>pter | (−) | |
| Del 6q | ORPHA96151 | <1/1.000.000 | 1 | 1 | 6qter** | (−) | |
| X-linked Ichthyosis | 308100 | 1/6.000 | 1 | 1 | 46,X,del(X) (p22p32) |
(−) | |
| del(3)(p25)->pter | ORPHA1618 | <1/1.000.000 | 1 | 1 | 3p25->pter*** | (−) | |
| Autism/Asperger syndrome | 300497 | 1–5/10.000 | 1 | 1 | 46,X,del(X) (p22.13p22.31) |
(−) | |
| Alagille syndrome | 118450 | 1/100.000 | 1 | 1 | 46,XX,del(20) (p11.23p12.2) |
(−) | |
| Turner syndrome | 158250 | 1/2.500 | 1 | 1 | 45, X**** | (−) | |
| Azoospermia | 415000 | 1–5/10.000 | 1 | 1 | Yq11.2 | (−) | |
| Dandy-Walker syndrome | 220200 | 1/25.000 | 1 | 1 | 3q24 | (−) |