Human biological resources available in our catalogue
Discover the human biological resources available in our BioJeL catalogue in January 2023
| TRISOMY 21 | ADN | PLASMAS * | PBMCs | LCL | FIBROBLASTES | CSF | NB OF PATIENTS | NB OF LONGITUDINAL SAMPLES |
|---|---|---|---|---|---|---|---|---|
| Free and homogeneous Trisomy 21 | 1343 | 4189 | 1647 | 1594 | 64 | 8 | 793 | 305 |
| Clinical Trisomy 21 | 739 | 2170 | 827 | 1032 | - | 16 | 549 | 113 |
| Trisomy 21 by translocation | 57 | 192 | 63 | 58 | - | - | 36 | 12 |
| Trisomy 21 in mosaic | 21 | 87 | 24 | 27 | 13 | - | 16 | 5 |
* includes HL plasma, Citrated plasma and EDTA plasma
| INTELLECTUAL DISABILITIES OF UNKNOWN ORIGIN | ADN | PLASMAS | PBMCs | LCL | FIBROBLASTS | NB OF PATIENTS | NB OF LONGITUDINAL SAMPLES |
|---|---|---|---|---|---|---|---|
| Intellectual disability of unknown origin | 405 | 1309 | 544 | 806 | - | 377 | 48 |
| OTHER INTELLECTUAL DISABILITIES OF KNOWN ORIGIN | DNA | PLASMAS | PBMCs | LCL | FIBROBLASTS | NB OF PATIENTS | NB OF LONGITUDINAL SAMPLES |
|---|---|---|---|---|---|---|---|
| Chromosomal disease | 72 | 216 | 93 | 114 | - | 65 | 6 |
| X - Fragile complete mutation | 22 | 96 | 33 | 37 | - | 23 | 1 |
| X - Fragile complete aymptomatic mutation | 5 | 6 | 7 | 11 | - | 5 | 1 |
| X-fragile premutation | 5 | 13 | 8 | 6 | - | 5 | 1 |
| 5p deletion | 14 | 61 | 21 | 36 | - | 11 | 3 |
| Genetic anomaly | 14 | 41 | 17 | 23 | - | 13 | 1 |
| Williams Beuren Syndrome | 8 | 23 | 7 | 10 | - | 6 | 1 |
| Smith Magenis Syndrome | 8 | 30 | 9 | 20 | - | 7 | 1 |
| Angelman's syndrome | 10 | 46 | 15 | 10 | - | 9 | 2 |
| Rett syndrome | 4 | 9 | 4 | 6 | - | 3 | 1 |
| Di Georges syndrome | 7 | 33 | 9 | 18 | - | 6 | 1 |
| CONTROLS | DNA | PLASMAS | PBMCs | LCL | FIBROBLASTS | NB OF PATIENTS | NB OF LONGITUDINAL SAMPLES |
|---|---|---|---|---|---|---|---|
| Trisomy 21 | 120 | 201 | 123 | 233 | 30 | 121 | 2 |
| Intellectual disabilities of unknown origin | 107 | 353 | 139 | 224 | - | 104 | 7 |
| Other intellectual disabilities of known origin | 61 | 117 | 85 | 110 | - | 60 | 3 |
Psychometric data
| NB of subjects | 0 to 18 YO | 19 to 35 YO | 36 YO and over | ||||||
| Male | Woman | Male | Woman | Male | Woman | ||||
| Trisomy 21 | 390 | 299 | 175 | 590 | 259 | 214 | |||
| Intellectual disabilities of unknown origin | 161 | 88 | 47 | 35 | 20 | 30 | |||
| Other intellectual disabilities of known origin | 16 | 17 | 6 | 15 | 3 | 9 | |||
| Controls | 3 | 2 | 10 | 29 | 12 | 17 | |||
Neuropsychological data*
| NB of subjects | High QI | Neuropsychological evaluation | ||
| Male | Woman | Male | Woman | |
| Trisomy 21 | 16 | 19 | 112 | 87 |
| Intellectual disabilities of unknown origin | - | - | 4 | 6 |
| Other intellectual disabilities of known origin | - | - | 1 | 3 |
* Data available since early 2020
