Multiple congenital abnormalities and/or mental retardation (MCAMR) or developmental delay
9q34.3 Microdeletion Syndrome
Clinical Features
Persons affected by microdeletion 9q34.3 show a severe muscular hypotonia with subsequent delayed motor and speech development.
Features:
- Facial dysmorphic features
Curved eyebrows with synophris
Flat Face with hypertelorism
Short nose with anteverted nostrils
Open mouth with macroglossia
Everted lower lip, down slanted corners of the mouth
- Additional clinical features
Hypotonia
Microcephaly
Congenital heart defects (septum defects)
Epilepsy (app. 30% of the patients)
Genetic Information
Deletion size and breakpoints range from approximately 0.7 to 2.3 Mb. There is a direct relation between the size of the deletion and the severity of clinical features. EHMT1, which is involved in the transcriptional turning-off of genes, is most likely responsible for the craniofacial features, microcephaly, hypotonia, and developmental delay.
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