CHD:CaseReport
From CHDWiki
[edit] CASE REPORT: 1495
[edit] General
| Bench ID: | 1495 |
| Primary ID: | PMID:21594994 |
| Secondary ID: | patient 1 |
| External ID: | |
| Comment: | 5q12.1q13.2 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 |
|---|---|
| development | Developmental delay from early age: sitting up without support at 13 months, walking at 22 months and absent speech when last examined at the age of 31 months. |
| growth | Birth parameters were in normal range (BW: 2885 g, length: 45 cm, OFC: 34 cm). Postnatal growth delay. |
[edit] Phenotype Description
| Code | Phenotype Trait | Definition |
|---|---|---|
| HP:0000483 | Astigmatism | Astigmatism is a kind of refractive error that is characterized by an irregular surface curvature of the cornea or the lens in one direction or the other. |
| HP:0000470 | Short neck | |
| HP:0001263 | Developmental delay | A delay in the achievement of motor or mental milestones manifested prior to age 18 and generally associated with lifelong mental and/or physical impairments. |
| AEPC:05.03.01 | Patent foramen ovale (PFO) | |
| HP:0001141 | Severe visual impairment | |
| HP:0000540 | Hypermetropia | An abnormality of refraction characterized by the ability to see objects in the distance clearly, while objects nearby appear blurry. |
| HP:0006239 | Brachymesophalangy of hands and feet | |
| HP:0000960 | Sacral dimple | A subtype of `skin dimples` (HP:0010781) presenting as an indentation in the skin of the intergluteal cleft . |
| HP:0000280 | Coarse facial features | Absence of fine and sharp appearance of brows, nose, lips, mouth, and chin, usually because of rounded and heavy features or thickened skin with or without thickening of subcutaneous and bony tissues. |
| HP:0000486 | Strabismus | Strabismus (also known as squint) is a condition in which the eyes are not properly aligned with each other. |
| AEPC:05.04.01 | ASD | |
| HP:0009887 | Abnormality of hair pigmentation | An abnormality of hair pigmentation (color). |
| HP:0008865 | Postnatal growth failure | |
| AEPC:07.10.00 | VSD | |
| HP:0001007 | Hirsutism | Abnormally increased hair growth referring to a male pattern of body hair (androgenic hair). |
| HP:0001290 | Generalized hypotonia | Generalized muscular hypotonia (abnormally low muscle tone). |
| LDDB:32.06.00 | SEIZURES, general abnormalities | |
| HP:0008872 | Feeding problems in infancy |
[edit] Chromosomal Aberrations
| Aberration | Label | Source | Platform | Confirmation | Comment | Inheritance | Cause of aberration |
|---|---|---|---|---|---|---|---|
| Deletion 5: 59354365 - 68864273 | Pathogenic | Bench | FISH | Agilent 44k | De novo |
