eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | down syndrome |
| Comorbidity | C0013080|trisomy 21 |
| Sentences | 9 |
| PubMedID- 24170809 | (5) developed a z-score method to detect pregnancies of children with trisomy 21, associated with down syndrome. |
| PubMedID- 22893513 | Figure 1 shows the chromosomal constitution of a male down syndrome patient with trisomy 21. patients with unbalanced structural abnormalities may have the normal number of chromosomes, but they lack parts of chromosomes or have parts in excess. |
| PubMedID- 24489824 | In recent years multiple independent studies have demonstrated the ability to detect fetal trisomies such as trisomy 21, the cause of down syndrome, by next-generation sequencing of maternal plasma. |
| PubMedID- 21152085 | From a google scholar search it was established that 9.9% of articles on down syndrome include ‘trisomy 21’ in the title. |
| PubMedID- 20051776 | Karyotyping showed classic down syndrome with trisomy 21. |
| PubMedID- 25309120 | trisomy 21, leading to down syndrome (ds) is the most common genetic cause of intellectual disability. |
| PubMedID- 22538991 | trisomy 21, the cause of down syndrome, has a severe and complex phenotype. |
| PubMedID- 22262948 | It is noteworthy, that down syndrome patients with trisomy 21 develop early onset ad pathology [27, 35]. |
| PubMedID- 23425868 | trisomy 21, the cause of down syndrome (ds), is the most frequent trisomy in humans. |
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