Misleading variant chromosome 12 in prenatal diagnosis.
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Biomedical subjects
Publications and source records attributed to M Verschuren.
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OBJECTIVE: Our objective was to characterise a marker chromosome in cultured amniocytes of a fetus with a mos 47,XX,+mar[3]/46,XX[14] karyotype. METHODS: The indication for prenatal cytogenetic analysis of cultured amniocytes was advanced maternal age. Classic banding techniques (GTG- and C-banding) were performed. Microdissection combined with reverse painting was used to disclose the exact origin of the marker; the result was confirmed by chromosome painting and FISH with band-specific probes. RESULTS: Analysis of GTG-banded chromosomes showed a small marker chromosome in 3 of the 17 colonies analysed. Subsequently, C-banding showed no alphoid sequences, suggesting the presence of a neocentromere. The parent's karyotypes were normal. After normal ultrasound findings, the parents decided to continue the pregnancy. Chromosome analysis in peripheral blood after birth demonstrated that the marker chromosome was present in 50% of the lymphocytes. Using microFISH, the marker was further characterised and appeared to be derived from chromosome region (8)(p22 --> pter). CONCLUSION: Accurate identification of the marker chromosome was very important for prenatal counselling. Combining the results of GTG- and C-banding analysis with the results of the (micro)FISH, we concluded that the patient's karyotype is: mos 47,XX,+mar.rev ish der(8)(p22 --> pter)[50]/46,XX[50].
The relative validity of information and food consumption in the distant past was assessed by combining a dietary history (referring to the recent past) with a food frequency list (monitoring major changes over the past 12-14 years). This approach was evaluated in a study of two groups of apparently healthy elderly people (mean age 80 years) who had participated in a food consumption study 12-14 years before the start of the present study. One group consisted of 18 harbor employees who retired subsequent to the initial assessment of food intake. On the average, each member of this group had reduced his food consumption by about 1,000 kcal. The other group consisted of 46 elderly men and women who had retired before their food consumption was measured initially. This group had not markedly changed their food intake. The results showed that both groups overestimated changes in their food intake and that the systematic overestimation and random error were similar for both groups. If the men in both groups were combined to form one group, a valid ranking of subjects in small and large consumers of energy and most of the selected nutrients was possible. However, current food intake influenced the accuracy of the measurement of past food intake.
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The serum of patients with pigeon breeder's lung (PBL) contains IgG-class antibodies against pigeon serum proteins. These antibodies cross-react strongly with the sera of other avian species. Cross-reactivity, as demonstrated by precipitation, complement fixation, haemagglutination and microELISA, is also exhibited with the water-soluble proteins in hen's egg yolk and egg white. The phenomenon appears to be due to the presence of hen serum proteins in the eggs, which occur particularly concentrated among the water-soluble proteins in the yolk ('livetins'). It is proposed that anti-egg antibodies may explain the frequent serological finding of 'false-positive' asymptomatic pigeon breeders.