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J Jenderny

Publications and source records attributed to J Jenderny.

At least 19 recordsLinked to original sources
PubMed2000

Detection of aneuploidy in chromosomes X, Y, 13, 18 and 21 by QF-PCR in 662 selected pregnancies at risk.

A quantitative fluorescent-polymerase chain reaction (QF-PCR) test system with different short tandem repeat (STR) markers of the X chromosome (SBMA, DXS8377 and DXS1283E) together with the amelogenin locus (AMXY) was developed for the rapid detection of sex chromosome aneuploidies on uncultured amniotic fluids. The samples (n = 662) were also tested with STRs specific for chromosomes 13, 18 or 21, with two STRs used for each chromosome. In uninformative cases, an additional STR marker was applied. The QF-PCR data were compared with the results of conventional cytogenetics. One dark red stained specimen showed an artificial PCR pattern, probably due to maternal contamination. Six sex chromosome aberrations (four 45,X, one 47,XXY, one mosaic 47,XXY/46,XX) were identified as aneuploid by STRs specific for chromosome X and AMXY. One pregnancy with a mosaic 45, X/46,XX karyotype was not detected by the assay. In all, 12 cases with a numerical aberration involving either chromosome 18 or 21 or with a triploidy were correctly diagnosed by QF-PCR. No information was obtained in one fetal sample with a trisomy 18 due to an uncertain result for two of the three applied STRs specific for chromosome 18 and an uninformative third STR marker. Two samples with an unbalanced Robertsonian translocation could be identified by QF-PCR as trisomic for chromosomes 13 and 21 respectively. The results show an excellent agreement between QF-PCR and cytogenetics with regard to sex chromosome and autosomal aneuploidy detection in prenatal diagnosis.

Amniotic Fluid↗
PubMed1998

Presence of the AZF region in a female with an idic(Y)(q11).

In a child with some features of Turner's syndrome, gonosomal mosaicism with an isodicentric nonfluorescent (idic)Y chromosome was detected (mos 45,X/47,X,idic(Y)(q11),idic(Y)(11)/46,X,idic(Y)(q11)). Histopathological examination showed streak gonads with some evidence of ovarian stroma and no sign of gonadoblastoma. Polymerase chain reaction (PCR) analysis in blood lymphocytes and gonadal tissues using primers of seven loci along the Y chromosome, including the sex determined region (SRY), azoospermia factor region (AZF) and the deleted in azoospermia (DAZ) gene was positive for all loci tested, confirming the isodicentric character of the Y chromosome and indicating the presence of the AZF region. It is remarkable that the existence of spermatogenesis controlling genes does not play an important role in gonadal development and differentiation in a phenotypic female with some Turner stigmata. The data presented here are briefly discussed with previously-described patients.

Child↗
PubMed1997

Mild phenotypic manifestations of terminal deletion of the long arm of chromosome 4: clinical description of a new patient.

We present clinical and developmental data on a patient with a de novo terminal deletion of the long arm of chromosome 4. Cytogenetic studies after G-banding revealed the karyotype 46,XY,del(4)(q34). The 4-year-old male showed mild facial dysmorphism, moderate mental retardation with speech retardation, and marked deficits in gross motor skills. Our patient is the second with this deletion described in the literature. In both patients the phenotype was characterized by mild to moderate mental retardation, abnormalities of the pinnae, and nonspecific facial dysmorphism. The mild phenotype might explain why only two patients with this deletion have been described so far.

Abnormalities, Multiple↗
PubMed1996

Interphase cytogenetics on paraffin sections of paediatric extragonadal yolk sac tumours.

Germ cell tumours in children are more often extragonadal than in adults and the most frequent type is the yolk sac tumour. Limited cytogenetic data exist on extragonadal yolk sac tumours in children. We applied in situ hybridization (ISH) to interphase cell nuclei of four paediatric extragonadal pure yolk sac tumours and one yolk sac tumour component of a mixed germ cell tumour using paraffin-embedded tissue sections. The panel of chromosome-specific DNA probes was selected on the basis of their relevance in adult germ cell tumours and consisted of five DNA probes specific for the (peri)centromeric regions of chromosomes 1, 8, 12, and/or 17, X and/or one DNA probe specific for the subtelomeric region of chromosome 1 (p36.3). Only one tumour failed to show numerical and structural chromosome aberrations with the DNA probes used. The other four had an increased incidence of numerical chromosome aberrations with an over-representation of at least one chromosome. The DNA indices determined in the paraffin-embedded tumour material correlated well with the in situ hybridization findings. In only a few cases were chromosomes over-represented, when compared with the corresponding DNA indices. Recently, we have shown that the short arm of chromosome 1 is a non-random site of deletion in paediatric gonadal pure yolk sac tumours. The occurrence of similar deletions in one extragonadal pure yolk sac tumour and in one yolk sac tumour component, in conjunction with two further ISH reports, suggests that the loss of gene(s) in this region is an important event in the pathogenesis of paediatric malignant germ cell tumours of nearly all sites.

Adolescent↗
PubMed1995

Detection of chromosome aberrations in paraffin sections of seven gonadal yolk sac tumors of childhood.

Yolk sac tumors are the most frequent kind of malignant pediatric germ cell tumor and may have a fundamentally different pathogenesis than adult germ cell tumors. Since few cytogenetic studies have been performed so far, in situ hybridization was applied to interphase cell nuclei of seven gonadal yolk sac tumors of childhood in routine paraffin-embedded tissue sections. The panel of chromosome-specific DNA probes was selected on the basis of their relevance in adult germ cell tumors and consisted of five DNA probes specific for the (peri)centromeric regions of chromosomes 1, 8, 12, 17 and/or X and/or one DNA probe specific for the subtelomeric region of chromosome 1 (p36.3). As in adult germ cell tumors, all pediatric gonadal yolk sac tumors had an increased incidence of numerical chromosome aberrations. All tumors showed an overrepresentation of at least three chromosomes. Gains of chromosome 12, which is highly specific in adult germ cell tumors, were diagnosed in six pediatric gonadal yolk sac tumors. The DNA indices determined in the paraffin-embedded tumor material correlated well with the in situ hybridization findings. A chromosome was either over- or underrepresented, compared with the corresponding DNA indices, in only a few cases. The short arm of chromosome 1 in adult germ cell tumors is often involved in structural aberrations. In pediatric germ cell tumors, the short arm of chromosome 1 is also a nonrandom site of structural aberrations. Moreover, the presence of a deletion at 1p36.3 in four out of five tumors suggests that the loss of gene(s) in this region is an important event in the pathogenesis of gonadal yolk sac tumors of childhood.

Adult↗
PubMed1993

Analysis of a terminal Xp22.3 deletion in a patient with six monogenic disorders: implications for the mapping of X linked ocular albinism.

The molecular characterisation of chromosomal aberrations in Xp22.3 has established the map position of several genes with mutations resulting in diverse phenotypes such as short stature (SS), chondrodysplasia punctata (CDPX), mental retardation (MRX), ichthyosis (XLI), and Kallmann syndrome (KAL). We describe the clinical symptoms of a patient with a complex syndrome compatible with all these conditions plus ocular albinism (OA1). He has a terminal Xp deletion of at least 10 Mb of DNA. Both the mother and sister of the patient are carriers of the deletion and show a number of traits seen in Turner's syndrome. The diagnosis of ocular albinism was confirmed in the patient and his mother, who shows iris translucency, patches and streaks of hypopigmentation in the fundus, and macromelanosomes in epidermal melanocytes. By comparative deletion mapping we can define a deletion interval, which locates the OA1 gene proximal to DXS143 and distal to DXS85, with the breakpoints providing valuable starting points for cloning strategies.

Abnormalities, Multiple↗
PubMed1993

Transmission of a ring chromosome 18 from a mother with 46,XX/47,XX, + r(18) mosaicism to her daughter, resulting in a 46,XX,r(18) karyotype.

A 6 month old patient is reported with a ring chromosome 18 confirmed by cytogenetic studies and in situ hybridisation. Her clinical features were similar to previous cases of ring chromosome 18 syndrome. The ring chromosome was inherited from the phenotypically and mentally normal mother with a mos 46,XX/47,XX, + r(18) karyotype.

Abnormalities, Multiple↗
PubMed1992

Sperm chromosome analysis of a man heterozygous for a pericentric inversion of chromosome 20.

The sperm chromosomes of a man heterozygous for inv(20)(p13q11.2) were analyzed. Twenty-six sperm chromosome complements were examined, of which fourteen contained the normal chromosome, and twelve the inverted chromosome. None of the sperm complements contained a recombinant chromosome 20. The frequency of structural chromosomal aberrations unrelated to the inversion was 11.5% (3/26). Numerical aberrations were not observed. The percentages of X- and Y-bearing sperm were 56% and 44%, respectively, which was similar to the expected 1:1 ratio.

Chromosome Inversion↗
PubMed1988

Chromosomal abnormalities and sister-chromatid exchange in bone marrow cells of mice and Chinese hamsters after inhalation and intraperitoneal administration. II. Cyclophosphamide.

The genotoxic effects of cyclophosphamide (CPP), a human and animal carcinogen requiring metabolic activation, were studied in bone marrow cells of mice and Chinese hamsters, analyzing chromosome abnormalities (CA) and sister-chromatid exchange (SCE) after a 2-h inhalation or a single intraperitoneal administration. In order to compare the genotoxicity after the different routes of administration in the dose range of 10-110 mg CPP/kg body weight, the systemic dose obtained by inhalation was calculated from blood concentrations and the inhalation duration after an analysis of the CPP blood kinetics. In NMRI mice the frequency of bone marrow cells with chromosome abnormalities was higher after aerosol exposure than after intraperitoneal administration of comparable CPP doses. In Chinese hamsters the CA frequency was similar with both exposure routes. Inhaled CPP was found to induce a higher frequency of CA and SCE in the bone marrow cells of mice compared to those of Chinese hamsters. The findings suggest that for genotoxins requiring metabolic activation species differences exist with respect to the influence of the route of entry and the sensitivity of bone marrow cells.

Aerosols↗
PubMed1987

Chromosome analysis of human sperm. I. First results with a modified method.

A modified technique has been developed for the visualization of the chromosomes in human sperm. The cytogenetic analysis of 129 G-banded human sperm metaphases of 6 normal donors showed an incidence of structural and numerical chromosome abnormalities of 7.8%. Two out of 129 spermatozoa were aneuploid (1.6%). The frequency of sperms with chromatid-type aberrations was 2.3% (3/129). Chromosome-type aberrations were found in 5 out of 129 (3.9%) spermatozoa. X to Y ratio did not differ significantly from the expected one-to-one ratio. Twenty-six sperm complements from a patient 18-20 months after testes exposure to 30 Gy were examined. A significant increase of numerical and structural chromosome abnormalities was not observed. Chromatid-type aberrations were found in two sperm complements (7.7%) and chromosome-type aberrations in one sperm complement (3.9%). The cytogenetic analysis of 15 human sperms from a cancer patient 26 months after chemotherapy showed an increased frequency of aberrant sperm complements (33.4%). One chromatid-type (6.7%), three chromosome-type aberrations (20.0%) and one (6.7%) hyperploid sperm complement could be observed. The sample size is still too small to answer the question whether chemical mutagens may increase the frequency of chromosomal abnormalities in human sperm.

Chromosome Aberrations↗
PubMed1987

Chromosomal abnormalities and sister-chromatid exchange in bone marrow cells of mice and Chinese hamsters after inhalation and intraperitoneal administration: I. Diepoxybutane.

Diepoxybutane (DEB), a direct-acting animal carcinogen, was found to increase the frequency of structural chromosomal abnormalities (CA) and sister-chromatid exchange (SCE) in bone marrow cells of mice and Chinese hamsters, when inhaled from an aerosol during a 2-h head-only exposure or administered as a single intraperitoneal injection. For the purpose of comparing the genotoxicity in the 2 species, both after inhalation and intraperitoneal administration, the systemic DEB dose obtained by inhalation was determined on the basis of blood concentrations and inhalation duration after the investigation of the blood kinetics. The bone marrow cells of male and female NMRI mice were found to be more sensitive than those of Chinese hamsters to the genotoxic activity of DEB.

Administration, Inhalation↗
PubMed1984

Control of meiosis by somatic cells in mice: inheritance of the meiosis I error 'diploidy' and nonexpression in sensitive NMRI/Han oocytes ovulated from chimeras.

NMRI mouse and Djungarian hamster females ovulate diploid and/or hyperploid oocytes with increased frequencies after gonadotrophin stimulation, suggesting that somatic cells are involved in the failures of endocrine control resulting in aneuploidy. To study the inheritance of gonadotrophin-induced aneuploidy as well as the fate of sensitive oocytes in a resistant somatic environment and vice versa, we analysed the frequency of diploid oocytes in NMRI/Han, C57BL/6J and their F1 hybrids (C57BL/6J X NMRI/Han), (NMRI/Han X C57BL/6J) as well as in NMRI/Han in equilibrium C57BL/6J chimeric females after gonadotrophin injections. Ovulated oocytes were analysed in all females for the appearance of diploidy, characterized as premature arrest of development at metaphase I. Our data suggest that the trait of induced diploidy is genetically determined and can be transmitted either maternally or paternally. A maternal effect modulated the expression of that trait. Several mechanisms acting on the feed-back control ovary-hypothalamus/pituitary, within the ovary or even within a chimeric follicle, may be responsible that 'sensitive' oocytes ovulated from chimeras are all normal haploid. These data suggest that not only oocyte maturation but also chromosome disjunction during meiosis I is controlled by somatic cells.

Aneuploidy↗
PubMed1983

The genetic basis of non-disjunction: increased incidence of hyperploidy in oocytes from F1 hybrid mice.

Oocytes from parental mice strains NMRI/Han, C57/bl and Balb/c and from F1 hybrid lines were analysed for aneuploidy due to non-disjunction after gonadotropin-stimulated ovulation. No hyperploid oocytes were present in five of the strains studied. F1 hybrids from crosses of NMRI/HanxC57/bl did ovulate, however, a significantly increased number of hyperploid oocytes, although females from their parental strains show a rather low incidence of non-disjunction. The evidence for a genetic basis for non-disjunction is assessed and possible causative factors are discussed.

Animals↗
PubMed1983

Low doses of X-rays decrease the risk of diploidy in mouse oocytes.

Females from the NMRI/Han mouse strain ovulate a high number of diploid oocytes (about 12%) after gonadotrophin-stimulated ovulation. These oocytes can be fertilized and develop into triploid embryos subsequently. The exposure of such gonadotrophin-primed females to X-ray doses of 0.05, 0.10, 0.20 or 0.40 Gy during the preovulatory period (2 h after the HCG dose) significantly decreased the percentage of diploid oocytes. After the highest dose used, i.e. 0.80 Gy, however, the incidence was on the level from unirradiated females, again. We suggest that the observed negative hump-shaped dose response of diploidy is not caused by secondary modifications induced by irradiation, such as a selective killing of diploid oocytes before ovulation, or a (compensatory) super-ovulation of only normal oocytes, but rather is caused by a direct radiobiological interference of low doses in protecting from gonadotrophin-induced aneuploidy.

Aneuploidy↗
PubMed1982

Nondisjunction and chromosome breakage in mouse oocytes after various x-ray doses.

The effect of varying X-ray doses (0.05-0.80 Gy) on preovulatory mouse oocytes was studied by measuring nondisjunction during the first meiotic division, as well as structural chromosome anomalies in ovulated oocytes at metaphase stage II. The incidence of nondisjunction (0.1% hyperploid oocytes) found in oocytes from nonirradiated NMRI-Han female mice was in accordance with the results previously obtained with the same strain. Significantly (P less than 0.05) more hyperploid oocytes (0.9%) were ovulated following irradiation with 0.8 Gy. There was no statistically significant increase of nondisjunction after low doses. Structural chromosome anomalies occurred, however, even after an irradiation dose as low as 0.05 Gy. The dose response for structural chromosome anomalies is altogether different from that of radiation-induced hyperploidy. We consider that irradiation of mature oocytes might well be less hazardous with regard to its potency for increasing nondisjunction during the first meiotic division when compared with the effect of chemical mutagens.

Animals↗