PubMed Health⌕ Search

Biomedical subjects

S Stengel-Rutkowski

Publications and source records attributed to S Stengel-Rutkowski.

At least 19 recordsLinked to original sources
PubMed1992

Partial trisomy 8q. Two case reports with maternal translocation and inverted insertion: phenotype analyses and reflections on the risk.

Partial trisomy 8qter-->q23 or q24.1 has been reported in 15 literature cases. We add two further case reports here. Patient 1 inherited the derivative (2) of a balanced maternal reciprocal translocation t(2;8)(qter;q2300) after 2:2 disjunction and adjacent-1 segregation, and is trisomic for the segment 8qter-->q2300. Patient 2 inherited a recombinant (8) of a balanced maternal inverted insertion inv ins(8)(q1300;q2300q24.2) and is trisomic for the segment 8q24.2-->q2300. The phenotype of both patients is described and compared to the spectrum of symptoms established from the 15 literature cases. This spectrum contains all features observed with a frequency of > = 50%. Patient 1 had 35% of the features of this spectrum; Patient 2 had 47%. The intrauterine survival probability of unbalanced offspring is assumed to be the same in both cases, as nearly the same segments are trisomic. The pedigrees indicate that the inversion carrier may have a reduced production probability of unbalanced gametes and therefore a reduced risk compared to the translocation carrier.

Abnormalities, Multiple↗
PubMed1992

Experiences with risk estimates for carriers of chromosomal reciprocal translocations.

The risk estimates for individual carriers of ten different familial reciprocal translocations detected among 500 couples with reproductive failures are presented. These were established by application of the empirical data analysed by Stengel-Rutkowski et al. (1988) and the guidelines given in Stene & Stengel-Rutkowski (1988). Different risks were estimated for unbalanced offspring at birth or at second trimester prenatal diagnosis for abortions, or stillbirths/early deaths. These risk estimates varied considerably from translocation to translocation. Carriers of five translocations had risks for offspring with single-segment imbalances. The birth risk figures ranged from 0.1% to 13.8%. Carriers of five other translocations had risks for double-segment imbalances with birth risks ranging from 0% to 3.2%. The estimated risk figures were independent of the method of ascertainment. Among the parents of the index cases we found nine maternal carriers and only one paternal carrier. This presentation illustrates the need for individual risk counselling of each carrier with reciprocal translocation regarding further family planning.

Abortion, Spontaneous↗
PubMed1992

Different risks in two familial translocations t(9;12) with similar breakpoints.

The risk of offspring with unbalanced karyotypes born to carriers of reciprocal chromosomal translocation (RCT) is important to evaluate for further family planning and prenatal diagnosis. The authors describe two families with carriers of similar RCT concerning breakpoint positions and discuss the different individual risks for abnormal progeny. These translocations were studied by GTG, RBG and CBG banding. They have the same breakpoint on 9p, i.e. 9p22, and a different one on 12p, i.e. terminal (pter----p13) and intermediate (p11.2), respectively. The risk value of 27% for family 1 was obtained directly from the large enough pedigree (high risk) a risk value of about 5% was estimated for family 2, according to the guidelines of Stene and Stengel-Rutkowski (1988). The data show that similar translocations with only slight differences in the breakpoints position have different risks for unbalanced progeny. Results of these empiric findings may be used directly in genetic counselling of a family with RCT leading to a single imbalance of the same segment.

Adolescent↗
PubMed1987

A reanalysis of the New York State prenatal diagnosis data on Down's syndrome and paternal age effects.

This paper reanalyzes the data from the Hook and Cross (1982) paper in this journal concerning the association between Down's syndrome and paternal age. The New York State (NYS) data are compared with a large European collaborative study by Ferguson-Smith and Yates (1984). The maternal-age-dependent risks in the NYS data were found to be significantly higher than in the European data. When the NYS data was divided into three groups by means of the paternal age, a marked two-peaked distribution was found. The maternal-age-dependent risk was high when the fathers were up to 33 years old, low when the fathers' ages were 34-39 years and high again when the fathers were at least 40 years old. The differences were significant. The results speak in favour of the existence of temporal, geographic, or environmental variations in the risk for de novo trisomy 21, as well as of a paternal age effect. The existence of a "paternal age effect" in at least some populations is confirmed. If the results of this paper are confirmed in other investigations, it will be necessary to revise present genetic counselling rules towards far more individually specified considerations.

Adult↗
PubMed1984

Anthropometric definitions of dysmorphic facial signs.

A photoanthropometric method is presented, which enables an objective definition of facial structures. It may support the clinical description of patients with dysmorphic syndromes. Eighteen parameters were studied. The measuring points were elected on the base of anthropological criteria. The measurements were related to reference values in the same face. The obtained indices were compared to an age related control group of 100 normal children between 0 and 12 years. Values below the 3rd and above the 97th percentile were considered as dysmorphisms. The results give information on the frequency and age dependency of different dysmorphic signs.

Age Factors↗
PubMed1984

Familial Wolf's syndrome with a hidden 4p deletion by translocation of an 8p segment. Unbalanced inheritance from a maternal translocation (4;8)(p15.3;p22). Case report, review and risk estimates.

This is the case report of a patient with Wolf's syndrome having a monosomy 4pter----p15.3 and an additional trisomy 8pter----p22, derived from a maternal balanced translocation t(4;8)(p15.3;p22) after 2:2 disjunction and adjacent-1 segregation. The patient's phenotype is presumably slightly modified by the trisomic 8p segment. Literature analyses indicate that phenotypic "hybrids" with traits of monosomy 4p and of other autosomal segment trisomies exist. The dermatoglyphics of the patient were not highly characteristic for Wolf's syndrome. Also the dermatoglyphics of the balanced translocation carriers were unspecific and did not reflect the carrier status. Pedigree analyses of 46 reported families with reciprocal translocations involving the short arm of chromosome 4 show a high risk (20.5% +/- 4.6%) for unbalanced offspring (trisomy or monosomy 4p) after 2:2 disjunction and adjacent-1 segregation, if the breakpoint in the recipient chromosome is terminal and the resulting imbalance concerns the 4p segment only. It is considerably lower (4.5% +/- 2.5%) if the breakpoint in the recipient chromosome is subterminal, as in the reported case, and the resulting imbalance concerns other chromosome segments additionally to the 4p segment. In both instances, the risk decreases with increasing segment length. The risk for unidentified abortions, stillbirths or neonatal deaths is also high in these families (about 40%). The frequency of progeny with balanced compared to progeny with normal karyotype corresponds to the expected 50% for alternate segregation.

Abnormalities, Multiple↗
PubMed1982

Genetic risks for familial reciprocal translocations with special emphasis on those leading to 9p, 10p and 12p trisomies.

An analysis of genetic risks for reciprocal translocations is given. Data from translocation families, ascertained through unbalanced offspring with trisomy 9p, 10p and 12p, were taken from the literature. The translocations were specified according to (1) the type of trisomy, (2) the degree of resulting chromosomal imbalance (partial short arm trisomies, complete short arm trisomies, complete short arm trisomies including long arm segments) and (3) the type of disjunction (2:2 or 3:1) and segregation (adjacent-1, adjacent-2; tertiary trisomy, interchange trisomy). The risks for unbalanced liveborn offspring were high for translocations leading to partial short arm trisomies through 2:2 disjunction and adjacent-1 segregation (25-29%). They were lower for translocations leading to complete short arm trisomies through the same disjunction/segregation mechanism (5-17%). Low risks were obtained for translocations, leading through 3:1 disjunction to unbalanced offspring (about 2%). For 2:2 disjunction and adjacent-2 segregation and for 3:1 disjunction the risk is significantly lower for male than for female carriers.--The frequency of balanced karyotypes compared with normal karyotypes deviated among the phenotypically normal offspring of parental carriers from the theoretical 1:1 ratio, both for translocations ascertained through trisomy 12p and trisomy 10p.--It was demonstrated that the genetic risk for reciprocal translocations depends exclusively on (1) the degree of possibly resulting genetic imbalance and (2) the probability of the disjunction/segregation mechanism leading to this type of imbalance. Both factors can be predicted from the position of breakpoints.--The precision of breakpoint localizations and its impact on the risk estimation are also considered.--Finally, general rules for genetic counselling of families with reciprocal translocations are indicated.

Age Factors↗
PubMed1981

[Transsexualism and the H-Y antigen].

First reports about incongruous H-Y antigen status in male-to-female and female-to-male transsexuals have been published by us in 1979. Meanwhile H-Y antigen expression was analyzed with the cytotoxicity assay of Goldberg et al. in 61 transsexuals. In 55 cases H-Y antigen status was found discordant with the anatomical, chromosomal and hormonal sex and corresponded to the gender identity of transsexuals. The relative frequency was 0,91. In 33 male-to-female transsexuals 29 were H-Y negative, one was intermediate, three were H-Y positive. In 28 female-to-male transsexuals 25 were H-Y positive, one was intermediate, two were H-Y negative. The new findings of an incongruous H-Y antigen status in genuine transsexuals may lead to new considerations about the pathogenesis of the disease and about the function of H-Y antigen.

Female↗
PubMed1981

Paternal age and Down's syndrome: data from prenatal diagnoses (DFG).

From prenatal diagnosis data obtained on mothers aged 35 years and above in the Federal Republic of Germany (DFG data), older fathers are demonstrated to have an increased risk of having trisomy 21 offspring. For paternal ages of 41 years upward, the age effect is quite strong. The risk for a fetus to have any de novo chromosomal aberration increases more with advancing paternal age for older mothers than for younger ones. Thus the ages of both parents have to be taken into account as an indication for prenatal diagnosis. Risk figures for trisomy 21 and for any de novo chromosomal aberration are given, together with preliminary recommendations for prenatal diagnosis for different combinations of parental ages.

Adult↗
PubMed1981

New chromosomal dysmorphic syndromes. 4. Trisomy 12p.

This is the report of two independent families in which a balanced maternal translocation led to trisomy 12 p in one of each their offspring. Evaluation of 21 further case reports indicates that this is a phenotypically well defined syndrome which leads to severe developmental retardation. It can be recognized by a characteristic combination of craniofacial anomalies which are summarized in a phantom picture. The gene sequences which produce the typical features in the trisomic state must be localized distally to band 12p12, which is the breakpoint in the partial trisomies. The specific craniofacial anomalies are not visibly modified by the length of the trisomic segment or additional small monosomies or trisomies of recipient chromosomes. However, the frequency and severity of organ malformations and the resulting probability of survival seem to decrease with increasing degrees of chromosomal imbalance. A cytogenetic classification of the 21 inherited translocations and a segregation analysis from the pedigree data was performed. For the different types of translocations the calculated risk figures are given.

Chromosomes, Human, 6-12 and X↗
PubMed1980

[Prenatal diagnosis in parents with a balanced structural chromosome aberration (author's transl)].

By means of 10 case reports, the significance of prenatal diagnosis and the risk for the progeny of parents with a balanced structural chromosomal aberration are demonstrated. The aberrations were ascertained through: a previous malformed child, previous miscarriages or stillbirths or through fetal cell analysis during prenatal diagnosis performed for independent reasons. Theoretical considerations concerning the estimates of risk figures in these families are presented and the currently available risk values which are the basis of the indication for prenatal diagnosis, given.

Adult↗
PubMed1979

New chromosomal dysmorphic syndromes. 3. Partial trisomy 3q.

Chromosome analysis in a newborn, the daughter of diabetic parents, who showed multiple dysmorphic signs and malformations revealed direct duplication of a long arm segment of chromosome 3(3q2100 leads to 3q2700). Both parents have normal karyotypes. Compilation of the phenotype stigmata with those of 7 other patients and 1 fetus with partial trisomy 3q confirmed that clinical recognition of this syndrome is possible. It is characterized by hypertrichosis, typical craniofacial dysmorphia, frequent organ malformations and skeletal anomalies, as well as a peculiar dermatoglyphic pattern. It is a severe genetic disturbance, leading to death in the first months of life in many cases and only symptomatic care is advised.

Bone Diseases, Developmental↗
PubMed1979

The dermatoglyphic pattern of the trisomy 9p syndrome.

This paper shows that the study of dermatoglyphics is an objective aid in the clinical diagnosis of chromosomal dysmorphic syndromes. The dermatologlyphic patterns of four patients with trisomy 9p were analyzed and compared with dermatoglyphic data from 63 published case reports on the condition. We consider that the following traits constitute the combination of dermatoglyphic patterns that is specific to trisomy 9p: an excess of arches on the fingertips and toes, a low total finger ridge count, the absence of digital triradii b and c, and the presence of zygodactylous triradii z, z' and z'', a simian crease, a single crease on the 5th finger, a hypothenar crease, a distally placed axial triradius t', a proximal or tibial arch or both on the hallux, and increased intensity of the plantar patterns. A "phantom picture" is constructed, which can be used for dermatoglyphic diagnosis of the trisomy 9p syndrome.

Chromosomes, Human, 6-12 and X↗