CHD:CaseReport
From CHDWiki
[edit] CASE REPORT: 1520
[edit] General
| Bench ID: | 1520 |
| Primary ID: | PMID:19264732_4 |
| Secondary ID: | patient 10 |
| External ID: | |
| Comment: | 9q34qter 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 |
|---|---|
| general | Minimal deleted region (140453431-141153431 (hg19)). |
| morphology | terminal 9q34 deletion syndrome. |
| development | Not assessed. |
[edit] Phenotype Description
| Code | Phenotype Trait | Definition |
|---|---|---|
| AEPC:07.10.00 | VSD | |
| HP:0000248 | Brachycephaly | An `abnormality of skull shape` (HP:0002648) characterized by a `decreased anterior-posterior diameter` (PATO:0002042). That is, a cephalic index greater than 81%. Alternatively, an apparently shortened anteroposterior dimension (length) of the head compared to width. |
| HP:0000316 | Hypertelorism | Interpupillary distance more than 2 SD above the mean (alternatively, the appearance of an increased interpupillary distance or widely spaced eyes). |
| HP:0002779 | Tracheomalacia | |
| LDDB:10.01.10 | Mid-face hypoplasia | Confusion over three terms used. 1) Mid-face hypoplasia 2) Flat face 3) Malar region flat. Use together in same box. |
| HP:0000252 | Microcephaly | Occipito-frontal (head) circumference (OFC) less than 3rd centile compared to appropriate, age matched, normal standards . Alternatively, an apparently decreased size of the `cranium` (FMA:46565). |
| AEPC:05.04.01 | ASD |
[edit] Chromosomal Aberrations
| Aberration | Label | Source | Platform | Confirmation | Comment | Inheritance | Cause of aberration |
|---|---|---|---|---|---|---|---|
| Deletion 9: 139853179 - 141153431 | Pathogenic | Bench | Other | Detected by MLPA (size ranges between 1.3Mb and 700kb). | De novo |
