CHD:CaseReport
From CHDWiki
[edit] CASE REPORT: 1389
[edit] General
| Bench ID: | 1389 |
| Primary ID: | PMID:19015223 |
| Secondary ID: | patient 12 |
| External ID: | |
| Comment: | 2q24.3q31.1 loss |
| Consent data: | 
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| Consent images: |
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[edit] Clinical Description
This patient does not yet have a clinical description.
[edit] Full Text Description
This patient does not have a Free text description.
[edit] Free Text Keywords
| Category | Text |
|---|
[edit] Phenotype Description
| Code | Phenotype Trait | Definition |
|---|---|---|
| LDDB:06.06.02 | Deafness, conductive | Used synonymously with middle ear deafness. |
| LDDB:32.31.06 | Myelination / absent or delayed | Poor or absent myelination. Don't use unless the delay in myelination is fairly gross! |
| LDDB:18.01.07 | Feeding problems in infants | A symptom rather than a sign! |
| LDDB:32.08.05 | Microcephaly | A reduction in head circumference of greater than 2SD below the mean. Parental measurements must be taken into account. |
| LDDB:09.07.02 | Broad nasal tip | Broad from side to side (not as the result of a cyst). |
| LDDB:32.04.02 | Mental retardation / developmental delay | Includes mental handicap, learning disabled, but not dementia. It is not progressive and the delay should be present from birth. |
| AEPC:06.02.00 | Mitral valvar abnormality | |
| LDDB:32.26.18 | EP flash visual abnormal (enlarged) | The 'enlargement' refers to the early (100ms or less) components of the response, since prominent components of longer latency are not uncommon, particuarly in children, and do not have clinical significance. |
| LDDB:06.01.07 | Large ears | These are measured from top to bottom. Strictly speaking they should be above the 97th centile on the chart. Note that ears get larger with age. |
| LDDB:08.05.03 | Short palpebral fissures | The fissure is short in the horizontal plane i.e. from side to side. |
| LDDB:02.01.00 | Short stature, general abnormalities | If this category is chosen all forms of 'short stature' are selected |
| LDDB:12.04.02 | Submucous cleft palate | A cleft covered by the mucous membrane of the soft palate |
| LDDB:32.06.00 | SEIZURES, general abnormalities | |
| LDDB:21.03.05 | Ectopic / supernumerary kidneys | Ectopy is an abnormal positioning of the kidney. It might be pelvic or thoracic in its displacement. Supernumerary kidneys may have a separate ureter and kidney |
[edit] Chromosomal Aberrations
| Aberration | Label | Source | Platform | Confirmation | Comment | Inheritance | Cause of aberration |
|---|---|---|---|---|---|---|---|
| Deletion 2: 165462770 - 174407160 | Pathogenic | Bench | Affymetrix 250k SNP array |
