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S Soukup

Publications and source records attributed to S Soukup.

At least 19 recordsLinked to original sources
PubMed2001

Prenatal diagnosis of trisomy 20 by chorionic villus sampling (CVS): a case report with long-term outcome.

A case of prenatally diagnosed non-mosaic trisomy 20 in cells cultured from a chorionic villus sample (CVS)is presented. The term placental karyotype was also non-mosaic trisomy 20. The karyotype of the newborn was 46,XY/47,XY,+20 in foreskin cultures and in a second skin culture; blood lymphocyte culture was 46,XY. Aside from diffuse, hypopigmentary swirls along the lines of Blaschko observed on his extremities and trunk, referred to as hypomelanosis of Ito, the patient is clinically normal at 8 3/4 years of age. In addition, he is one of the oldest reported cases of mosaic trisomy 20 confirmed after birth for which the clinical outcome has been monitored. This case demonstrates that these trisomy 20 findings are compatible with normal psychomotor development and phenotype.

Adult↗
PubMed1999

Karyotype studies in 18 ependymomas with literature review of 107 cases.

Cytogenetic studies from 17 pediatric ependymomas and 1 ependymoblastoma are presented. Eight tumors had abnormal karyotypes. Another 107 published cases of cytogenetic analyses from pediatric and adult ependymomas or ependymoblastomas were reviewed. Of the total 125 tumors, 83 (66%) had abnormal karyotypes, of which 24 had a sole autosomal abnormality. Approximately one third had monosomy 22 (-22) or breakpoint 22q11-13, with a higher incidence in adult (56%) versus pediatric (28%) tumors. Structural abnormalities of chromosomes 1, 6, and 17, and numerical abnormalities of 7, 9, 12, and 20, in particular, are also discussed. Although no primary cytogenetic abnormality is evident, these findings may provide direction for additional investigations regarding the classification of these tumors.

Adolescent↗
PubMed1997

Chromosome analyses in a rhabdoid tumor of the brain.

A malignant rhabdoid tumor of the brain from a 19-month-old child was studied. Two related clones, 46,XX,-8,+der(8)t(8;22)(p11;q?12)x2,-22,del(22)(q12q?13) and 46,XX-8,+der(8)t(8;22) (p11;q?12) x2,-22,r(22) were found after chromosome analyses of primary and recurrent tumor, and multiple nude mouse passages of the tumor. Breakpoints were studied using FISH.

Animals↗
PubMed1995

Familial partial duplication (1)(p21p31).

A partial duplication (1)(p21p31), resulting from a maternal direct insertion (13,1) (q22p21p31), was found in a 30-year-old woman with mental retardation, cleft palate, and multiple minor anomalies. Two other affected and deceased relatives were presumed to have the same chromosome imbalance. Duplication 1p cases are reviewed.

Abnormalities, Multiple↗
PubMed1995

Marker chromosome 21 identified by microdissection and FISH.

A child without Down syndrome but with developmental delay, short stature, and autistic behavior was found to be mosaic 46,XX/47,XX,+mar(21) de novo. The marker was a small ring or dot-like chromosome. Microdissection of the marker was performed. The dissected fragments were biotinylated with sequence-independent PCR as a probe pool for fluorescence in situ hybridization (FISH). FISH results suggested an acrocentric origin of the marker. Subsequent FISH with alpha-satellite DNA probes for acrocentric chromosomes, and chromosome-specific 21 and 22 painting probes confirmed its origin from chromosome 21.

Child, Preschool↗
PubMed1994

Deletion of (11)(q24.2) in a mother and daughter with similar phenotypes.

A del(11) (q24.2) was ascertained in a 2-year-old child and subsequently in her 20-year-old mother. Both mother and daughter had developmental delay, short stature, and "coarse" facial appearance. We compare our patients' manifestations to those associated with the distal 11q2 deletion phenotype ("Jacobsen" syndrome), and to the one other reported case of del(11)(q24.2). Our patients did not resemble this latter case, but had some findings in common with Jacobsen syndrome. We present our findings in order to contribute to the information on 11q2 deletions.

Adult↗
PubMed1994

Physical mapping of the uterine leiomyoma t(12;14)(q13-15;q24.1) breakpoint on chromosome 14 between SPTB and D14S77.

Uterine leiomyoma is the most common tumor of smooth muscle cell origin and is often associated with the recurrent balanced translocation t(12;14)(q13-15;q24). As an initial step toward finding the gene or genes that are interrupted by the translocation breakpoint, a somatic cell hybrid carrying the derivative 14 as the single t(12;14) translocated chromosome was constructed from a leiomyoma cell line with this translocation. Sequence tagged sites (STS) whose locations on the genetic map of chromosome 14 were known were used to map the breakpoint in the translocated chromosomes. The results of this analysis place the translocation breakpoint on the long arm of chromosome 14 between the proximal marker SPTB and the distal marker D14S77, narrowing the chromosomal translocation breakpoint to a region of approximately 7 cM. The identification of flanking markers on chromosome 14 lays the foundation for efforts to clone the breakpoint and to identify the genes involved in the formation of leiomyoma.

Animals↗
PubMed1993

Growth patterns of human neuroblastoma xenografts and their relationship to treatment outcome.

BACKGROUND: Several investigators have reported the ability to establish xenografts in nude mice from children with neuroblastomas, but a correlation of prognosis with this establishment and the growth patterns of the neuroblastomas has not been reported. METHODS: Tumor specimens from 58 children with neuroblastomas were heterotransplanted into BALB/c nude mice. In 34 patients, heterotransplantation was done before therapy; in 24 patients, tumors were obtained after at least one course of chemotherapy or radiation therapy. The histology, cytogenetics, and growth characteristics of serial passages of the xenografts were studied. RESULTS: The engraftment rate was 34%. Neuroblastomas with diploid chromosome numbers did not engraft. Chromosomal abnormalities involving 1p were seen in more than 50% of the xenografts. Cytogenetic features were retained between original tumors and resultant xenografts. Xenografts could be established only from tumors with unfavorable histology, as defined by Shimada classification criteria. The histology of each xenograft line was strikingly similar, and each was highly undifferentiated. Engraftment rates, doubling times, and lag times did not vary appreciably between xenografts established from treated tumors compared with xenografts established from untreated tumors. There was no correlation between doubling or lag times and prognosis. Patients whose tumors engrafted had only a 5% 3-year survival rate. CONCLUSIONS: From these results, it appears that successful engraftment is the most important prognostic indicator for patients with neuroblastomas. Because of the commonality of the histologic features and the stability of the tumor clones from patients before and after heterotransplantation, these xenografts may be useful as an in vivo model for studying drug resistance and for designing treatment regimens.

Animals↗
PubMed1990

Chromosome analysis of 31 Wilms' tumors.

Cytogenetic analysis was done on 31 Wilms' tumors, including 2 renal tumors of clear cell sarcoma type, using short term cultures of primary tumors and/or nude mouse passages. Nonrandom secondary chromosome abnormalities, in particular, were noted as evidence of clonal evolution. Apparently normal karyotypes were found in 5 Wilms' tumors, all in patients less than or equal to 22 months old, and in one clear cell sarcoma. Abnormal karyotypes were seen in 25 tumors (80%); 6 were pseudodiploid, 3 were hypodiploid, and 16 (52%) were hyperdiploid, of which 8 had a modal number of 47-49 and 8 had a modal number of 50-55. Nonrandom structural abnormalities involved 1p/1q, 11p, 7p/7q, 16p/16q, 12q, and 17p/17q. Nonrandom numerical abnormalities included +6, +8, and +18. Trisomy 12 was the most common abnormality, structural or numerical, seen in 52% of tumors (81% of the hyperdiploid). In 2 tumors the +12 was the only apparent abnormality; in 1 other tumor an i(12q) was seen, suggesting that +12 may have special significance in the clonal progression of Wilms' tumor. Informative karyotypes of 68 Wilms' tumors from other reports were reviewed and compared to results in this series.

Child↗
PubMed1990

Prenatal diagnosis of Pallister-Killian syndrome.

We describe a case of Pallister-Killian syndrome ascertained by routine amniocentesis as i(12p). The i(12p) was also found in 4 tissues of the aborted fetus, where various degrees of mosaicism 46/47 + i(12p) were seen. Although autopsy showed no major malformations, some of the minor anomalies of Pallister-Killian syndrome were found.

Adult↗
PubMed1990

Comparison of chromosome analysis to DNA content by flow cytometry for pediatric tumors.

Chromosome analyses in a series of 50 pediatric tumor samples showed abnormal chromosome number, ranging from hypodiploid to tetraploid. Aliquots of the same solid tumor samples were analyzed by flow cytometry (FCM). Material from spontaneous abortions and 12 tumor samples with normal chromosomes were also compared in a control series of 83 samples. Tumors or abortuses with 44-48 chromosomes could not be differentiated from material with normal diploid complement by FCM. However, greater than or equal to 3-4 extra chromosomes produced detectable differences in mean DNA index. Triploidy and tetraploidy were readily identified by FCM. It is concluded that FCM could identify an important group of hyperdiploid pediatric tumors, as well as 3N and 4N tumor complements.

Child↗
PubMed1989

Molecular differential pathology of rhabdomyosarcoma.

Tumors of the soft tissues are classified histogenetically according to their phenotypic resemblance to normal adult tissue. Here we describe molecular approaches that make it possible to distinguish between one class of these tumors, rhabdomyosarcoma, and other small-, round-cell tumors. We show that the ascertainment of specific genotypic changes can be used to distinguish further between the embryonal and alveolar subtypes of rhabdomyosarcoma. We tested our model in two ways: first, in a retrospective analysis of diagnostically problematic cases of undifferentiated, small-cell tumors and, second, in a blind study of pediatric tumors. Rhabdomyosarcoma was correctly identified in all cases using this strategy alone. The underlying simplicity of the strategy used to define rhabdomyosarcoma subtypes with molecular markers suggests a model by which tumors can be unequivocally identified, which may apply equally well to other human solid tumors.

Adolescent↗