2004 Volume 29 Issue 1 Pages 1-7
The authors studied 73 patients diagnosed as having deletion at chromosome 22q11.2on the basis of genetic analysis. The results were as fo llows:
1. Specific facial appearance was observed in 99% of patients. Small stature and asymmetric crying face were also found in most patients.
2. Cardiac anomalies were found in 53 patients (73%), and TOF was dominant. Other findings were as follows: hypocalcemia, hypoparathyroidism, finger anomalies, ear anomalies, cervical and spinal abnormalities, and so on.
3. Mental Or developmental retardation (IQ or DQ<60) was found in 65% of patients.
4. In speech findings, there were eleven patients who had articulation disorders including glottal stop without velo-pharyngeal closure insufficiency (VPI). Twenty-nine patients with VPI have undergone surgical operations, and pharyngeal flap operation seemed to be effective. These patients tend to need a long time for restoration of normal speech in conversation even if their VPI improved.
