CHD:CaseReport
From CHDWiki
[edit] CASE REPORT: 1417
[edit] General
| Bench ID: | 1417 |
| Primary ID: | PMID:19863549 |
| Secondary ID: | patient 2 |
| External ID: | |
| Comment: | 21q21q22 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:07.01.05 | Hypertelorism | Wide-set eyes. Measured as an interpupillary distance greater than 2SD of the mean. |
| 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: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. |
| LDDB:15.01.05 | Short neck | The head seems to sit directly on the shoulders (or closer than normal to the shoulders). |
| AEPC:05.03.01 | Patent foramen ovale (PFO) | |
| LDDB:23.04.19 | Thin fingers | Often in association with long fingers - rather use the latter feature if present. |
| LDDB:14.01.01 | Cat cry / weak, high-pitched cry | Also called a 'cerebral cry' as it is often indicative of brain damage. The cry is high pitched and present only during infancy. See below for 'high-pitched voice'. |
| LDDB:02.01.02 | Short stature, prenatal onset | Best not to use this category alone. The diagnosis of short stature is likely to be made post-natally so where appropriate add another category to this, in the same box. Use for bone dysplasias present at birth. |
| LDDB:08.05.05 | Palpebral fissures slant down | An 'anti-mongoloid' slant to the palpebral fissure, which is normally horizontal. |
| LDDB:08.05.03 | Short palpebral fissures | The fissure is short in the horizontal plane i.e. from side to side. |
| LDDB:07.06.03 | Coloboma of iris | A failure of closure of the fetal fissure leaving a slit. 'Typical' refers to those in the fetal fissure (inferior medial, keyhole type). Those in other places are 'atypical'. |
| AEPC:09.27.21 | Patent arterial duct (PDA) | |
| LDDB:06.01.08 | Low-set ears | The topmost (superior) insertion of the ear is below an imaginary line drawn horizontally between the canthi of the eyes. The head must be in an upright position. A much over-diagnosed sign. |
[edit] Chromosomal Aberrations
| Aberration | Label | Source | Platform | Confirmation | Comment | Inheritance | Cause of aberration |
|---|---|---|---|---|---|---|---|
| Deletion 21: 23132129 - 35070130 | Pathogenic | Bench | FISH | 38K BAC-array from Swegene DNA Microarray Resource Center | De novo |
