Chromosome changes in embryos treated with various teratogens.
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Abnormalities, Drug-Induced↗
Biomedical subjects
S Soukup
Publications and source records attributed to S Soukup.
Chromosomes in cleft-palate tissues.
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Chromosome Aberrations↗
Third report of t(19q)(13.4) in mesenchymal hamartoma of liver with comments on link to embryonal sarcoma.
We report the third known case of mesenchymal hamartoma of the liver (MHL) with a balanced translocation involving a common breakpoint, 19q13.4. A common clonal chromosome abnormality appears to characterize an important subset of MHL, some of which may be low-grade neoplasms. We found no consistent karyotype abnormality in a post-treatment sample of embryonal sarcoma of the liver (ESL). Reports of coexistent MHL and ESL in two patients and detection of 19q abnormalities in two ESLs appear to support Stocker's hypothesis of a histogenetic link between these two rare liver lesions. More data are needed to clarify this relationship. It is possible that MHLs are etiologically heterogenous and may be developmental disorders, disruptions, or neoplasms.
Child↗
Pathologic features of the eye in triploidy.
Triploidy is a cytogenetic abnormality characterized by 69 chromosomes rather than the normal 46 in each cell. It is one of the most common chromosomal aberrations reported in early spontaneous abortion. Estimates are that 17-20% of chromosomally abnormal abortuses (early) are triploid. 1,2 Although the majority are stillborn, at least 25 liveborn triploidics have been reported. 3-9 All were premature and most died in the first 6 hours;the longest survival was 2 months. 4 By contrast, a diploid/triploid mosaic (mixed cell lines) individual may survive to adulthood. Although ocular lesions are one of the components of the triploidy syndrome, reports of histologic findings are comparatively rare. 1,3,6,10,11 This prompted us to study the ocular pathology in another case of triploidy. Our results confirm and extend those previously described and emphasize the pattern of ocular abnormalities in this disorder.
Chromosomes, Human, 13-15↗
Pathologic features of the eye in trisomy 9.
A clinical and pathologic study of a neonate with mosaic trisomy 9 revealed findings similar to those in other cases with this chromosomal anomaly. Except for deeply-set eyes and small palpebral fissures with slight telecanthus, our ocular findings have not previously been described in mosaic trisomy 9. The most striking ocular pathologic alterations involved the anterior segment and included a keratolenticular adhesion and marked iris hypoplasia. There were similarities to Peters' anomaly as well as to ocular lesions associated with aplasia of th optic nerve and Lowe's and Potter's syndrome. The ocular and extraocular anomalies in our patient appear to have resulted from a mesodermal dysgenesis operational between one and five and a half months of gestation.
Abnormalities, Multiple↗
Further observations of ocular pathology in trisomy 9.
The ocular pathology in a new patient with mosaic trisomy 9 comprised major anomalies and contrasted sharply with the findings in a previous case reported by us. The ocular changes in this case were, in essence, indistinguishable from those encountered in the most severe form of trisomy 13. Similarities to trisomy 18 and 21 were further evidence of the overlap of ocular findings in autosomal trisomies. There is increasing evidence that most, if not all, chromosomes have some role in regulating ocular embryogenesis.
Chromosomes, Human, Pair 9↗
Detection of unexpected clones of monosomy 7 in childhood acute lymphoblastic leukemia using fluorescence in situ hybridization.
The feasibility of a fluorescence in situ hybridization (FISH) technique for the detection of leukemic clones with masked chromosomal aberration in interphase nuclei was tested in childhood acute lymphoblastic leukemia (ALL). Twenty-one cases of ALL previously studied by classical metaphase cytogenetics were retrospectively analysed using a centromere-specific chromosome 7 probe. Five cases with karyotypic abnormalities of chromosome 7 (2 with trisomy 7, 2 with monosomy 7 and 1 with trisomy & tetrasomy 7) showed a correlation with FISH results, whereas in five other cases monosomy 7 was found in 12-43% of cells only by FISH. The unexpected detection of monosomy 7 in these latter ALL patients suggests that either these clones are quiescent or unable to enter mitosis in vitro. This suggests that FISH and metaphase cytogenetics must be combined whenever possible to obtain comprehensive karyotypic information.
Bone Marrow↗
S-cells from a highly N-myc-amplified neuroblastoma are tumorigenic in nude mice.
Some neuroblastoma tumors when cultured in vitro give rise to N (neuronal) and S (non-neuronal) cells, which differ in morphology, state of differentiation, and tumorigenicity. Previously, tumor-forming potential was shown to be characteristic of N cells but not S cells. We examined cultures of N and S cells derived from a well-characterized, N-myc-amplified human neuroblastoma cell line, NBL-W, to determine whether these N and S cells also show differential tumorigenicity in nude mice. N cells formed tumors in 94% of trials and S cells formed tumors in 56% of trials. Although S cell tumors had a longer lag phase prior to tumor development, when tumors developed, both N and S cell-derived tumors grew rapidly. These results suggest that S cells do not always represent a benign component of neuroblastomas.
Animals↗
Hepatoblastoma in a child with trisomy 18: cytogenetics, liver anomalies, and literature review.
A 26-month-old female with trisomy 18 and repaired omphalocele died of metastatic disease after resection of hepatoblastoma (HB) at 21 months of age. Four other cases (three of them published) suggest that the association of trisomy 18 and HB may be nonrandom. Karyotype abnormalities of the tumor in our case included duplication of 2q and +20, reported previously in HB arising in patients with normal karyotype. Antecedent growth disturbance of liver, either intrinsic (abnormal lobation) or related to contiguous extrinsic anomalies such as omphalocele or local diaphragmatic hypoplasia and possibly augmented by unusual sensitivity to noxious environmental agents, may predispose to hepatoblastoma in trisomy 18. Longevity in trisomy 18 predisposes to both hepatoblastoma and Wilms tumor, possibly by a shared pathway.
Child, Preschool↗