Chromosome 22q11.2 deletion causes DiGeorge syndrome, velocardiofacial syndrome, conotruncal anomaly face syndrome with tetralogy of Fallot (TOF), and sporadic or familial TOF. To determine the prevalence and clinical importance of the 22q11.2 deletion in TOF, a series of 212 Japanese TOF patients was studied. The type of pulmonary blood supply, which may lead to various clinical outcomes, and other additional anomalies were evaluated clinically. The 22q11.2 deletion was diagnosed by fluorescence in situ hybridization with N25 and TUPLE1 probes. Of the 212 patients examined, 28 (13%) had a 22q11.2 deletion, the frequency being higher than that in TOF patients with trisomy 21. The prevalence of the deletion in TOF patients with pulmonary atresia (PA) plus major aortico-pulmonary collateral arteries (MAPCA) was significantly higher than the value in patients with PA plus patent ductus arteriosus (PDA) (P = 0.04) or with pulmonary stenosis (PS) (P < 0.0001). All 28 patients with 22q11.2 deletion had one or more extracardiac abnormalities. Four of 9 patients with the 22q11.2 deletion and TOF-PA-MAPCA suffered from bronchomalacia, while none of 19 patients with TOF-PA-PDA or TOF-PS manifested bronchomalacia (P = 0.006). These results indicate that 22q11.2 deletion is the most frequent cause of syndromic TOF, especially for TOF-PA-MAPCA, and bronchomalacia is the clinically most important associated anomaly in TOF-PA-MAPCA patients.

(Nakamura et al., 1965a,b;Crompton et al., 1966), coma vigile (Gerstenbrand, 1967), parasomnia (Jefferson, 1944), akinetic mutism (Cairns et al., 1941), and apallic syndrome (Kretschmer, 1940). Recently, Jennett and Plum (1972) We arbitrarily designed the following criteria in order to study such patients: (1) defect of verbal and behavioural communication; (2) loss of expression of intention; (3) absence, or at least reduction of emotional expression; (4) urinary and faecal incontinence; (5) complete loss of selfsupportability; (6) continuation of above conditions for more than three months, regardless of causative disease. Patients and methodsIn response to simple inquiries to 269 hospitals in 16 prefectures of western Japan on 1 June 1973, 193 potentially suitable cases were reported from 189 hospitals; we then visited each hospital and examined each patient. Based on the above criteria, 110 patients were included in our study.Although we were unable to assess the incidence of vegetative patients for all districts responding to our inquiry our survey did cover all hospitals within Yamaguchi prefecture, a population of approximately 1.5 million. We found 37 vegetative patients, an incidence of 0.0025%.We examined the behaviour, response to various stimuli, and neurological signs of the 110 patients in our sample. Analyses were also made of the results of ancillary examinations, methods of management of the patients, and effectiveness of treatment given. In order to assess the level of 876

We confirmed that the dual-LET-kernel model well reproduced the MCS, not only in the homogeneous phantom but also in complex patient geometries. The accuracy of the LET was largely improved from the single-LET-kernel model, especially at the lateral penumbra. The model is expected to be useful, especially for proper recognition of the risk of side effects when the target is next to critical organs.

We present a case of a 9-year-old boy with nemaline myopathy and dilated cardiomyopathy. The combination of nemaline myopathy and cardiomyopathy is rare, and this is the first reported case of dilated cardiomyopathy associated with childhood-onset nemaline myopathy. A novel mutation, p.W358C, in ACTA1 was detected in this patient. An unusual feature of this case was that the patient' s cardiac failure developed during early childhood with no delay of gross motor milestones. The use of a b-blocker did not improve his clinical course, and the patient died 6 months after diagnosis of dilated cardiomyopathy. Congenital nonprogressive nemaline myopathy is not necessarily a benign disorder: deterioration can occur early in the course of dilated cardiomyopathy with neuromuscular disease, and careful clinical evaluation is therefore necessary.

Chromosomal abnormalities involving 19p13.3 have rarely been described in the published literature. Here, we report on a girl with a pure terminal duplication of 6.1 Mb on 19p13.3, caused by an unbalanced translocation der(19)t(10;19)(qter;p13.3)dn. Her phenotype included severe psychomotor developmental delay, skeletal malformations, and a distinctive facial appearance, similar to that of a patient previously reported by Lybaek et al. [Lybaek et al. (2009); Eur J Hum Genet 17:904-910]. These results suggest that a duplication of >3 Mb at the terminus of 19p13.3 might represent a distinct chromosomal syndrome.