Multiple congenital abnormalities and/or mental retardation (MCAMR) or developmental delay
3q29 Microdeletion Syndrome
Clinical Features
Microdeletions of different sizes have been described for 3q29 Microdeletion Syndrome. Common to all patients are a mild to moderate mental retardation and microcephaly. Clinical characterictics vary within a family. The syndrome is thus difficult to detect based on dysmorphic features.
Features:
- Developmental delay:
- Mild to moderate mental retardation
- Dysmorphic features:
Long face
Small philtrum
- Rare clinical features:
Microcephaly
Autism
Ataxia
Horse shoe kidney
Pigment abnormalities
Genetic Information
The typical deletion size is approximately 1.5 Mb and involves 5 genes.
Diagnostic
Indication
Method
Karyotyping
FISH
Array CGH
Sample Requirement
2 - 5 ml of heparinised blood
2 - 4 ml of EDTA blood
Duration
1 - 2 weeks