22q11.2 deletion syndrome (DiGeorge / velocardiofacial syndrome)
Autoszomális domináns · About 1 in 2,000 to 4,000 births.
A deletion of about 1.5 to 3 million bases on chromosome 22, including the TBX1 gene, that can cause congenital heart disease, low T-cell numbers, low calcium, palate differences and an increased risk of psychiatric conditions including schizophrenia.
Mit változtat a diagnózis
Established guidelines recommend calcium, immune, cardiac and mental-health monitoring, and each child of a carrier has a 50% chance of inheriting the deletion.
Vizsgált gének
Más néven
22q11 deletion syndrome; 22q11.2DS; 22q11DS; catch 22; Cayler cardiofacial syndrome; conotruncal anomaly face syndrome; DiGeorge sequence; DiGeorge syndrome; microdeletion 22q11.2; monosomy 22q11; Sedlackova syndrome; Shprintzen syndrome; Takao syndrome; VCFS
3 kapcsolódó altípust tartalmaz ↓Altípusok elrejtése ↑
- chromosome 22q11.2 deletion syndrome, distal
- DiGeorge syndrome
- velocardiofacial syndrome
