Biomedical subjects
Publications and source records attributed to M Andrle.
A girl with severe mental retardation and conspicuous phenotype features is described. The chromosomal aberration consists of a partial trisomy 8q of the region 8q22----qter. Minor deletion of the terminal part of the region 8p23 must be presumed, resulting in partial monosomy of this region. Inversion of chromosome 8 was found in the father and his mother.
The high incidence of hepatitis A and B in institutionalized patients with Down's syndrome is not fully understood. Under poor hygienic conditions immunological alterations might predispose to these infections. To minimize environmental influences, 125 patients with Down's syndrome (mean age 11.9 years) living at home with their families were studied for the occurrence of serological markers of Hepatitis A and B. 106 outpatients with mental retardation of other genesis (mean age 12.4 years), and 114 consecutive voluntary blood donors (mean age 18.0 years) from the same area served as controls. Evidence of previous hepatitis A virus infection was found in 5.6% of Down's patients, in 9.4% of other mentally retarded patients, and in 16.7% of healthy controls. Evidence of previous or ongoing hepatitis B virus infection was a common finding in both groups of mental retardation (Down's syndrome 20.0%, other mentally retarded patients 11.3%) in sharp contrast to healthy blood donors (0.9%, p less than 0.05). Patients with Down's syndrome, however, revealed a much higher incidence of HBs-antigenemia as compared with other mentally retarded patients (12.8% vs. 2.8%, p less than 0.01). All HBs antigen-positive cases had normal transaminase levels and no overt clinical signs of liver disease, suggesting an asymptomatic carrier state. These data indicate that hepatitis A is not a special risk for mentally retarded outpatients, while hepatitis B virus infection is hyperendemic even in not-institutionalized patients.(ABSTRACT TRUNCATED AT 250 WORDS)
Satellite associations and cell-cycle kinetics were investigated in short-term blood cultures from selected pairs of chromosomally normal persons and patients with trisomy 21. The cell-cycle duration was found to be longer in patients with trisomy than in normal persons. The frequency of satellite associations and the involvement of chromosomes 21 with them showed no difference between the two groups of persons. The involvement of the homologues of a pair (or triplets) of chromosomes 21 in satellite associations showed remarkable individual differences. No correlation between satellite association and meiotic non-disjunction can be established on the basis of these results.
A family with three retarded children is described. The phenotypical features of the eldest girl are uncharacteristic, whereas both other girls show the typical symptoms of the Cri-du-chat syndrome. Cytogenetic examination showed a balanced translocation t (3,5) in the father and partial trisomy 5 p and monosomy 5 p in the two surviving daughters.
Two unrelated cases of 4q trisomy are described with trisomic segment 4q25 leads to 4qter. The most conspicuous symptoms are psychomotor retardation, microcephaly, malformed ears, retrognathia, finger and toe malformations and cryptorchism in a male. Both cases are compared with 19 previously reported ones.
A behaviorally and clinically abnormal female orangutan was analyzed cytologically using general banding techniques and by an alkaline silver method for staining nucleolus organizer regions. The karyotype had 49 chromosomes, including an extra chromosome 22 (49,XX + 22). No variant chromosome types or heterozygous structural rearrangements were found. Nine of the 14 large acrocentric chromosomes, Nos. 11--17, and three of the five presumptive human G-group equivalents, i.e., two of three chromosomes 22, and one chromosome from pair 23, exhibited positive silver staining of the nucleolus organizer region (NOR).
Orangutan metaphase chromosomes, obtained from a female animal with trisomy 22, were stained by a recently developed distamycin/DAPI fluorescent technique which had been shown to differentiate specific C-bands on human chromosomes, as well as by other banding techniques. Distamycin/DAPI-brilliant fluorescence was observed in the short arm regions of acrocentric chromosomes 11--17, 22 and 23, and a brightly fluorescent paracentromeric band was seen on chromosome 8. A smaller amount of fluorescence was found adjacent to the centromere of most of the other chromosomes. Sequential distamycin/DAPI and Giemsa C-staining of the metaphases revealed that the "hot-spots" on acrocentrics correspond to C-band material in their short arm. The less intensely fluorescent centric bands on other chromosomes coincide with centromeric C-bands. Reverse fluorescent staining of organutan chromosomes with chromomycin A3 revealed brightly fluorescent regions at short arms of some acrocentrics probably confined to the satellite, either in a heteromorphic form (Nos. 11, 14, 17) or of similar size (No. 22).
A 5-year-old male with multiple malformations (dwarfism, microcephalia with brachycephalic shape of skull, mongoloid lid axis, epicanthus, convergent strabismus, flat root of the nose, micrognathia, missing uvula, deformed low-set ears, hypoplastic genitals, and general hypotonia), severe mental retardation, and cerebral paroxysms caused by a partial monosomy (1)(q42 leads to qter) is described. This case is compared with other cases with a partial monosomy or ring-1 chromosomes.
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Report of a family with 7 cases of balanced translocation t(4p-,7q+), resulting in partial trisomy in 2 children descending from parents being brother and sister. Description of the clinical cases, family history, and cytogenetic findings followed by a short discussion of phenotypical differences of the two probands.
2 patients with 13- and C9-rings are reported. On reviewing the phenotypical features of the published ring carriers and comparing them with our results we do not find any characteristic similarities. This can be explained by cytogenetical and biological findings. We are therefore inclined to reject the existence of clear-cut ring chromosome syndromes.
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