Biomedical subjects
Publications and source records attributed to N Mandahl.
Cytogenetic analysis of a highly malignant osteosarcoma in a 17-year-old girl revealed extremely complex karyotypic changes with several different clonal numerical and structural chromosome aberrations. The composite karyotype was interpreted as 39-41,X,t(X;9)(q11;p24), -1,der(1), -4, -4, -5,i(7q),-8,del(8)(q21),t(10;19)(p13;q13),del(11)(p11p13), t(12;18)(q24;q12), -13,13q+,-14,14p+,-15,15q+,17p+,19q+,-21,+22,+3-6 mar.
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The present study shows the occurrence of the trichorhinophalangeal syndrome type I in a Swedish family. Five members were affected and they were examined clinically and radiologically, and four of them were also cytogenetically examined. Three of them had dysplasia of the hip joints reminiscent of the Legg-Calvé-Perthes disease. Functional hand problems were common. High resolution G banding displayed normal chromosome complements. The inheritance was autosomal dominant. The data presented stress the importance of identifying the syndrome early in life so as to prevent the development of impaired hand and hip function.
In a malignant soft-tissue fibrous histiocytoma 50-56 chromosomes were found in the majority of the metaphases. The most frequent numerical aberrations were one or two extra copies of chromosomes 4, 5, 18, 20, 22, and a missing chromosome 15. Structural rearrangements encountered were 11p+ and 1-5 unidentifiable markers. The most conspicuous feature was pairs of chromosomes intimately associated or fused at their telomeres, observed in 20 out of 22 metaphases. Although the telomeres of 6p, 11p, 16q, 20q, and 21p were involved most frequently, no preferential pattern of associations was detectable. This peculiar chromosomal behavior is compared to similar observations recently reported in a case of a B-cell lymphoid leukemia.
Variant translocations were found in eight of 142 consecutive patients with Ph-positive, chronic myeloid leukemia encountered in our laboratory during the last decade. Two patients had simple, two-way variant translocations: t(17;22)(p13;q11) and t(16;22)(q24;q11). Both of these patients had an additional translocation involving chromosomes #9: t(7;9)(q22;q34) and t(9;17)(q34;q21), respectively. Complex variant translocations were found in four cases: t(2;9;22)(p23q12;q34;q11), t(3;9;22)(p21;q34;q11), t(9;12;22)(q34;q13;q11q13), and t(13;17;22)(p11;p11q21;q11). In two cases, the only discernable cytogenetic aberration was del(22)(q11). A review of the chromosomal breakpoints involved in this series and in 185 cases of variant Ph translocations previously reported in the literature reveals that a disproportionately large number of breakpoints are located in light-staining regions of G-banded chromosomes. Furthermore, the breakpoints in simple variant translocations are more often located in terminal chromosomal regions, whereas, the breakpoints in complex translocations typically affect nonterminal bands. No obvious correlation was detected between variant Ph translocation breakpoints and either fragile sites, oncogene locations, or consistent chromosome breakpoints in other malignancies.
The cytogenetic findings in 20 experimental and 80 diagnostic cases of first trimester trophoblast biopsy are presented. All samples were obtained between the 8th and 13th week of gestation with the direct vision, trans-cervical technique. Except when fetal sexing because of X-linked disease was the issue, long-term culture with in situ preparation was the method routinely employed in processing the biopsies for cytogenetic analysis. In 78 of the 80 clinical cases and in all reported experimental cases we were successful in establishing a karyotype from the sampled tissue. Unbalanced karyotypes were found in two experimental and six clinical cases. Tetraploidy was found in one clinical case, but was not confirmed in subsequently sampled amniotic fluid cells. In another clinical case, we were unable to confirm in the aborted placenta the trisomy 18 found in the trophoblast biopsy. In the rest of the induced abortions in the clinical series, the karyotype arrived at prenatally has been confirmed, and the 27 babies so far born have been healthy and with phenotypic sex corresponding to the prenatal findings. Six women have miscarried after sampling; in one of these cases the fetus had the karyotype 47,XX, + 13.
Chorionic villi were obtained by a direct vision technique. Villi without vessels (38 cases) failed to grow in vitro, irrespective of the amount of tissue. Vascular villi with an estimated weight exceeding 5 mg (71 cases) grew in vitro--with two exceptions.
Seven different strains of mice (wild, C57BL, DBA, B6CBA, A/sn, NZB and NMRI) were continuously exposed to 150 ppm trichloroethylene (TCE) during 30 days. After exposure all strains showed large increases in liver weight, while changes in kidney and spleen weights were small. Plasma butyrylcholinesterase (BuChE) activity increased in males of all strains and in females of strains A/sn and NZB. The increase in the females was less than that of the corresponding males. We concluded that there are moderate, but in some cases, significant differences in TCE sensitivity between different mouse strains. The differences observed between sexes emphasizes the importance of specifying sex as well as strain when reporting on toxic effects.
A case of Ullrich-Noonan syndrome with pulmonary stenosis, epicanthus, ptosis, small stature, curved tibia, positive sex chromatin, and a diploid chromosome number is presented. A detailed chromosomal banding analysis with the G-staining, C-staining and Ag-I-staining techniques revealed no significant anomalies. The literature is reviewed and the criteria for diagnosing Ullrich-Noonan syndrome are presented.
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For several years the SEWA mouse ascites tumor has been a carrier of double minute chromosomes (DMs), some 90% of its cells containing from one to several hundred DMs. In one specific subline of this tumor, the cells with DMs had decreased in frequency to less than 5% of the cells. At the same time, the stemline chromosome number had increased from 43 to around 50. This was due to the presence, in addition to the ordinary telocentric chromosomes, of a varying number of medium-sized metacentrics. The fact that these chromosomes deviated from ordinary mouse chromosomes in special features, such as median centromeric position, early DNA replication, and complete lack of centromeric heterochromatin, indicates that they represent a new type of chromosome. Their striking agreement with the DMs in many properties makes it tempting to associate their origin with the disappearance of the DMs.
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