Subtelomeric rearrangements and 22q11.2 deletion syndrome in anomalous growth-restricted fetuses with normal or balanced G-banded karyotype.

OBJECTIVE: To determine the frequencies of cryptic subtelomeric rearrangements and 22q11.2 deletion in anomalous growth-restricted fetuses with normal or balanced G-banded karyotypes. METHODS: This was a study of 27 consecutive fetuses at a median gestational age of 26 (range, 19-33) weeks, that had intrauterine growth restriction (IUGR) as well as at least one major structural anomaly, and a normal or balanced G-banded karyotype. The median maternal age was 29 (range, 17-39) years. Fluorescence z in-situ hybridization (FISH) diagnosis of the cultured amniocytes with the probe TUPLE 1, and then the Chromoprobe Multiprobe-T system were used, respectively, to screen for the frequency of 22q11.2 deletion syndrome and subtelomeric rearrangements involving the 41 unique chromosome ends (i.e. excluding the five short arms of acrocentric autosomes (no. 13, 14, 15, 21 and 22)). Those that had suspected deleted subtelomeres were reanalyzed with a specific subtelomeric probe, TelVysion. RESULTS: Of the 27 fetuses, three (11%) were affected with 22q11.2 deletion syndrome and two (7.4%) had subtelomeric deletions (one monosomy 21q22.3, one monosomy 1p36.3). Of the 11 fetuses with congenital heart defects, three (27.3%) had 22q11.2 deletion syndrome and one (9.1%) had monosomy 1p36.3. In the remaining 16 fetuses without congenital heart defects, none had 22q11.2 deletion syndrome. However, one (6.3%) had cryptic rearrangement involving subtelomeres. CONCLUSION: Prenatal subtelomeric FISH screening is technically feasible using cultured amniocytes. We propose that 22q11.2 deletion syndrome and cryptic subtelomere rearrangements may be important etiologies of fetuses with IUGR and at least one structural anomaly, along with a normal karyotype or one that is balanced by traditional G-banding. Fetuses with congenital heart defects and IUGR should undergo FISH to exclude 22q11.2 deletion syndrome. In fetuses with IUGR and at least one major structural anomaly but without congenital heart defects, screening of subtelomeric rearrangements may contribute to further elucidation of the underlying etiology.

Incidence and clinical manifestations of Campylobacter enteritis in central Taiwan.

BACKGROUND: Campylobacter species are recognized as a major cause of acute gastroenteritis in humans throughout the world and are increasingly associated with the development of Guillain-Barré syndrome. The age distribution of persons and the seasonal patterns of Campylobacter infection are different in many developed and developing countries. The present study reports the investigation of the clinical and epidemiologic features of Campylobacter infections in central Taiwan. METHODS: From January 1994 to December 1996, stool specimens from patients with diarrhea or gastroenteritis were cultured for the Campylobacter species at the China Medical College Hospital. Data collected and evaluated included the type of Campylobacter species isolated, date of report, age and sex of the person from whom the isolate came, and clinical symptoms. RESULTS: Of 6,540 patients with diarrhea or gastroenteritis, 162 Campylobacter isolates were identified, yielding an isolation rate of 2.5% from the population studied. One hundred and fifty-four patients (95%) with Campylobacter infection were younger than five years old, which was significantly different from the population studied (p < 0.001). The Campylobacter infection was significantly higher in males (62.3%) than females (37.7%) (p = 0.0017). In central Taiwan, the incidence of Campylobacter enteritis is higher during the winter (35.2%) than during the spring (19.1%), summer (24.1%) or fall (21.6%) (35.2 vs 24.1%, p = 0.021). Campylobacter jejuni was found to comprise 81% (132 strains) of 162 Campylobacter isolates, and its isolation rate was significantly higher than Campylobacter lari (10%) and Campylobacter coli (9%) (p < 0.001). From 1994 to 1996, isolation rates of Campylobacter species increased from 1.9 to 2.8% of the population studied (34/1, 754 vs 57/2, 187) and the positive isolation rate ratio of Campylobacter species to Salmonella species also increased from 15.4 to 27.8% (34/221 vs 57/205). However, no significant difference was found between these results (p > 0.05). Watery diarrhea is the most characteristic manifestation of illness, and fever occurs in more than half of the patients. CONCLUSIONS: In central Taiwan, the incidence of Campylobacter enteritis in patients with diarrhea or gastroenteritis is lower than those in China and Tanzania, but the highest prevalence occurs before five years of age in central Taiwan as well as these countries. The Campylobacter infection rate was significantly higher in males than females, and occurred primarily in winter. We conclude that Campylobacter cultures should be performed for fecal specimens of all diarrheal children aged up to five years.