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Biomedical subjects

I Hansmann

Publications and source records attributed to I Hansmann.

At least 73 records · Page 4Linked to original sources
PubMed1987

Familial Prader-Willi syndrome with apparently normal chromosomes.

We report on 4 sibs (2F, 2M) with Prader-Willi syndrome (PWS). Diagnosis was made clinically on the basis of history, behavior, and physical findings in 3 of the sibs. The other child had died at age 10 months with a history and clinical findings typical of first phase of PWS. Results of chromosome studies on the parents and surviving sibs were normal. The implications of this unusual familial occurrence for our understanding of PWS are discussed.

Adult↗
PubMed1987

A cytogenetic study directly from chorionic villi of 140 spontaneous abortions.

Spontaneous abortions were studied by analyzing chromosomes directly from chorionic villi. The frequency and the type of anomalies detected among 140 abortuses are in good agreement with those observed by others using conventional tissue cultures. Abnormal karyotypes were found in 48.6% of the cases. Trisomy predominated (66.2%), followed by polyploidy (22.1%), monosomy X (7.4%), and structural anomalies (4.4%). Among the trisomies, the most prevalent were of chromosome 22 (22.2%), 16 (22.2%), and 13 (9.5%). The relative frequencies of trisomies, monosomy X, and the different chromosomes involved in trisomies seem to differ between our study and those in which tissue cultures were analyzed. Our low frequency of 45,XO karyotypes and the shift to trisomies of chromosomes whose involvement increases steeply with maternal age are considered due to the approximately 3 year higher mean maternal age in our sample. The sex ratio (male to female) in chromosomally abnormal abortuses was 1.28, which is nearly identical to the 1.2 found in earlier studies. Surprisingly, in chromosomally normal abortions males were significantly outnumbered by females (sex ratio 0.76). Since maternal cell contamination cannot have influenced the sex ratio in our study, we consider it worthwhile to investigate whether failures associated with X inactivation are responsible for pregnancy wastage of some euploid female conceptuses. Knowledge of the karyotypes may serve as a prerequisite for the investigation of non-chromosomal genetic causes of pregnancy wastage.

Abortion, Spontaneous↗
PubMed1987

Meiotic nondisjunction in oocytes from aged Djungarian hamsters correlates with an alteration in meiosis rate but not in univalent formation.

The effect of maternal ageing on the meiotic rate, on chiasma and univalent frequency as well as on heteroploidy in secondary oocytes from Djungarian hamsters was examined. The frequency of hyperhaploid oocytes increased from 0.6% in young (8-14 weeks) to 2.8% in middle-aged (26-46 weeks) and reached 3.6% in the oldest females (49-75 weeks). On the basis of malsegregated bivalents per oocyte, nondisjunction occurred most often in the middle-aged group (5.42 X 10(-2) bivalents per oocyte). Hereby, the large meta- and submetacentric A-D chromosomes were preferentially involved. Furthermore, the pattern of nondisjunction was not different from that expected on the basis of chromosome length or induced by colchicine. The large A-D chromosomes did not show any alteration in chiasma or univalent frequency. Terminalized chiasmata were only detected in the E group and univalents increased slightly, but not significantly in the small chromosomes (G group). At higher ages, both chromosome groups were not preferentially involved in nondisjunction. Presegregation slightly increased with age and affected more or less all bivalents, whereas the incidence of diploidy significantly decreased. With respect to the rate of meiosis in oocytes from aged females, the resumption was delayed at metaphase I. Our data suggest that failures in the control of oocyte proliferation are involved in nondisjunction rather than the "production-line." Furthermore, a model is proposed to explain nondisjunction of specific bivalents at certain maternal ages.

Aging↗
PubMed1987

Chromosome segregation at meiosis I in female T(2;4)1Gö/+ mice: no evidence for a decreased crossover frequency with maternal age.

The influence of age and hormones on chromosome segregation at meiosis I was studied in female mice heterozygous for the T(2;4)1Gö translocation. Females of two age groups (18-22 and 40-56 weeks old) were stimulated for ovulation with different doses of gonadotropins (1.5 IU PMS/1.0 IU HCG or 10 IU PMS/10 IU HCG). Analysis of metaphase II oocytes revealed the highest level of hyperhaploidy (1.8%) and presegregation (4.4%) in the young females receiving the low dose. Presegregation preferentially affected the small 4(2) marker chromosome. There was no significant interference of the tetravalent with disjunction of the nontranslocated normal bivalents. Moreover, no remarkable difference in the mode of segregation (adjacent I, II or alternate) was observed. Recombination within the interstitial pairing segments of the chromosomes involved in the translocation allowed us to calculate cross-over frequencies in ovulated oocytes. For both the large 2(4) and the small 4(2) marker chromosomes, this frequency was higher in old than in young T(2;4)1Gö/+ females. Our data do not support the production line hypothesis of Henderson and Edwards (1968) which claims that chiasma frequency in oocytes decreases with maternal age.

Aging↗
PubMed1987

Neuropathology of Seckel syndrome in fetal stage with evidence of intrauterine developmental retardation.

Marked intrauterine developmental retardation in a fetal case of Seckel syndrome was morphologically defined in the 29th week of gestation by comparing with a large number of length-matched and age-matched controls. Telencephalic micrencephaly with reduced neuroblast production, retarded functional differentiation of the pituitary gland, and generalized hypotrophy with craniofacial stigmata were observed.

Abnormalities, Multiple↗
PubMed1987

Absence of specific luteinizing hormone-releasing hormone (LHRH) receptors in the ovaries of Djungarian hamsters (Phodopus sungorus).

High affinity binding sites for luteinizing hormone-releasing hormone (LHRH) were characterized in Djungarian hamsters. Scatchard analysis was used to demonstrate specific LHRH-binding in hamster and, serving as controls, rat pituitaries (dissociation constant, KD = 0.6 nM, binding capacity, BM = 2.5 +/- 0.7 fmol/mg tissue; KD = 0.6 nM, BM = 6.9 +/- 1.9 fmol/mg tissue, respectively). In contrast to results obtained with rat ovaries (KD = 0.9 nM, BM = 3.0 +/- 0.9 fmol/mg tissue), no specific LHRH-binding was detected in hamster ovaries. Thus, it seems that direct gonadal action of LHRH in the Djungarian hamster is not involved in ovarian regulation.

Animals↗
PubMed1986

High susceptibility for diploidy in ovulated oocytes from XO mice.

Adult female mice of the "sensitive" NMRI/Han strain ovulate diploid oocytes after gonadotropin treatment. Other mouse strains are "non-sensitive" with respect to the ovulation of such diploid oocytes. In this study we combined the impaired ovarian situation in the XO karyotype with the trait "diploidy", which is determined genetically, by mating Ta/O (Ta = Tabby) females of C3H X 101 background to males of the NMRI/Han strain. The adult female F1 hybrids were stimulated to ovulation by gonadotropins and identified by their karyotype (XX or XO). The cytogenetic analysis of ovulated oocytes revealed a low level of diploidy in the XX littermates (1.0%), but a very high level in females with the XO karyotype (24.6%). All of the XO females ovulated at least one diploid oocyte. We suggest that it is the XO status which drastically impairs meiosis I in our "gonadotropin-sensitive" F1 females due to (1) alterations of the developmental program within the oocyte, (2) a disturbed communication between oocyte and follicle, (3) a preferential maturation and ovulation of "follicles at risk", or (4) an exceptional recruitment of many such follicles, by, e.g., a premature responsiveness to gonadotropins in our XO females. An interdependence of several such mechanisms is possible.

Animals↗
PubMed1986

Follicular maturation, luteinization and first meiotic division in oocytes after inhibiting mitochondrial function in mice with chloramphenicol.

A significant number of diploid oocytes is ovulated from adult NMRI/Han mice treated with high doses of gonadotrophins. This inhibition of the first meiotic division is very likely caused by an altered communication between the germ cell and the surrounding somatic cells leading to a failure of the endocrine control of meiosis. The present study examined the role of mitochondria in follicular development, oocyte maturation and chromosomal segregation during first meiotic division in NMRI/Han mice. To affect mitochondrial function during the late phase of follicular maturation, chloramphenicol, a potent inhibitor of mitochondrial peptidyl transferase, was used. Adult mice were treated with chloramphenicol (CAM; 18.8 or 37.5 mg/kg b.w.) at different times after the pregnant mare serum injection. The results revealed that CAM inhibited the characteristic increase of ovarian weight, reduced the number of oocytes ovulated per female, lowered the progesterone concentration in the postovulatory ovary and increased the incidence of ovulated diploid oocytes. It was concluded that an irregular mitochondrial function may affect normal follicular development and oocyte maturation, and potentially interferes with the order chromosome segregation during the first meiotic division.

Animals↗
PubMed1986

Follicular development in immature Djungarian hamsters (Phodopus sungorus) and the influence of exogenous gonadotropins.

This study evaluated follicular development and oocyte growth in ovaries of immature Djungarian hamsters from 8 to 28 days of age and examined the influence of exogenous gonadotropins on follicular growth. An age-specific pattern of progressive follicular development was found, beginning with a compact, virtually undifferentiated ovary containing mostly small follicles on Day 8 postpartum and progressing to an ovary with mature preovulatory follicles at the end of the fourth week. Antral follicles not present on Day 12 were first detected on Day 16 postpartum. Follicles were sensitive to gonadotropins (GTH) by Day 12 postpartum, as indicated by the stimulation of follicular maturation by treatment with GTH. Ovulation, however, could be induced only when treatment with GTH was begun with females from Day 14 postpartum onwards. It was concluded that the injected GTH initiated and enhanced follicular growth in immature Djungarian hamsters.

Age Factors↗
PubMed1985

Mechanisms of nondisjunction: facts and perspectives.

An ordered segregation requires distinct processes of differentiation within the germ cell for recognition and segregation of homologous chromosomes/chromatids. These include synchronous maturation of the nucleus and cytoplasm, chromosome pairing and assembly at the metaphase plate, and movement within the spindle; all of them may be under direct/indirect regulatory control by the surrounding somatic compartments. Interference, e.g., by hormonal alterations at any of these steps, may alter the normal program of differentiation, thus increasing the risk of chromosomal malsegregation. Hence, many different causative mechanisms may exist which basically, nevertheless, act via (a) nonsegregation, (b) chance segregation, both during meiosis 1 and 2, or (c) presegregation during meiosis 1. In our animal models of the Djungarian hamster and the NMRI/Han mouse strain, we are analyzing the mechanisms of nondisjunction and presegregation during meiosis 1 in oocytes, as well as during aging of the females, by the application of hormones (gonadotrophins and steroids) and specific microtubular inhibitors (colchicine and methylbenzimidazolcarbamate). We suggest that chromosomes play a relatively passive role, although chromosomal properties, e.g., length, chiasma number, NORs, and position within the spindle, may provide an individual risk for each bivalent to be affected by nondisjunction. Failures in the endocrine control of follicular and germ cell maturation are considered to be primary causes for nondisjunction in young and aging oocytes. The understanding of the differentiation processes resulting in the maturation of follicles "at risk" may provide us with the tool to prevent the generation of aneuploidy in man.

Abortion, Spontaneous↗
PubMed1985

A familial X-autosome translocation with the breakpoint in the "critical region".

We report a case of an X-autosome translocation t(X;4)(q13;p16) found in both sexes in three generations. The anomaly was diagnosed in a couple referred for cytogenetic investigation as a result of three spontaneous abortions. With the exception of the miscarriages there are no particularities in the gynecologic data of the woman or in the pedigree. In all 50 lymphocytes and in 66 of 68 fibroblasts investigated the normal X chromosome was the late replicating one.

Abortion, Habitual↗