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Anxiety engendered by amniocentesis.

Anxiety was measured and compared in three groups of 12 pregnant couples undergoing amniocentesis for prenatal diagnosis of chromosomal disorders. Significant elevations in anxiety were found in all groups prior to counseling on the day of the procedure and prior to receiving test results. Women who had previously given birth to a child with a chromosomal disorder displayed higher anxiety levels prior to amniocentesis than women whose indication for the procedure was age. Fathers in the previous trisomy group had higher anxiety levels prior to the receipt of test results as well as before the amniocentesis when compared to fathers in the maternal-age group. An experimental group of couples in which the women were over 35, received weekly calls from the genetic counselor. This intervention did not reduce median anxiety scores significantly for either men or women but did lower anxiety among the minority of extremely anxious mothers. Parental anxiety levels were interpreted based on interview data. Conditions which promote anxiety were contrasted to those which diminish it. Suggestions were made for amniocentesis counseling earlier in pregnancy and for identifying parents who would benefit by extra attention from counselors.

Amniocentesis

[Human chromosome polymorphism and disordered reproductive function. I. Routine chromosome variants].

Routine polymorphic variants of chromosomes of 58 married couples with reproductive failure (two or more spontaneous abortions, stillbirths and malformed children) and 48 control couples, having two or more normal children and no spontaneous abortions and stillbirths, were investigated by conventional staining technique. Extreme variants of chromosomes 1, 9, 16, 17, 13--15, 21--22 and Y were found in 17.2% of subjects with reproductive loss and in 15.6% of control individuals. No significant differences in frequencies of scored routine variants were noted between married couples with reproductive failure and couples with normal reproduction.

Abortion, Habitual

Cytogenetics of recurrent abortions.

Chromosome banding studies were carried out on both partners of 37 couples who had had two or more spontaneous abortions. Three patients had chromosome disorders; one was a triple-X female and the other two (one male and one female) were t(13;14) translocation carriers. Review of the literature indicates that the over-all frequency of major chromosome disorders in couples with repeated abortions is 2.6%. About three-fourths of these disorders are reciprocal and Robersonian translocations.

Abortion, Habitual

[Effect of viral vaccines on animal bone marrow cell chromosomes].

A comparative study on the effect of a number of viral vaccines (live and inactivated vaccinia, poliovirus type II, measles, rabies vaccines) on chromosomes of mouse bone marrow cells was carried out. Most vaccines were found to impair the process of first divisions of these cells after vaccination. Live vaccinia vaccine and live fixed rabies virus cause an increase in the rate of structural chromosome aberrations at later intervals, 30-90 days after immunization. The main type of chromosome disorders is chromatid break. Some of the live vaccines studied (poliovaccine type II, measles vaccine) and inactivated vaccines caused no increase in the rate of cromosome structure disorders as compared to the control. Live fixed rabies virus exerts a stronger impairing effect on division of mouse bone marrow cells than a rabies vaccine with residual virulence. A rabies vaccine completely inactivated by UV-irradiation had no impairing effect on chromosomes of immunized animals. Thus, some live vaccines, unlike inactivated ones, cause chromosome disorders in bone marrow cells of mice late after immunization and, apparently, subsequent death of some cells with the most important distrubances.

Animals

Prospective study of genetic counselling.

A prospective study was carried out on 200 consecutive subjects seen for counselling (consultands) for serious genetic disorders. Educational and social background of consultands and their knowledge and understanding of their particular problem were assessed before counselling, and their response was determined immediately afterwards and three months and two years later by an independent observer not concerned in the genetic counselling. The husband's educational background was particularly important in influencing a couple's comprehension of counselling. X-linked recessive and chromosomal disorders presented the most difficulties in comprehension. The counsellors' assessment of comprehension was a good guide to the consultands' comprehension as assessed at subsequent follow-up. The proportion deterred from having children increased with time and over a third had been sterilised within two years of counselling. It is suggested that follow-up after counselling should be routine, especially when the counsellor suspects that comprehension has not been good, in X-linked recessive and chromosomal disorders, and when the risks of having an affected child are considered to be high.

Adult

Status and prospects of genetic disease.

The current status of our knowledge of genetic diseases is reviewed. The incidence of monogenic, multifactorial and chromosomal disorders, according to the literature to date, is given, and the possibilities of mass screening programmes are discussed. The prospects for antenatal diagnosis of genetic diseases are reviewed, with emphasis on the indications for amniocentesis and the safety of the procedure. Finally, speculations are made regarding the possible effects of medical and social practices on the frequency of genetic disorders in future generations.

Amniocentesis

[Human chromosome polymorphism and disordered reproductive function. II. C-variant chromosomes].

C-stained polymorphic variants of chromosomes 1, 9, 13--16, 21, 22 and Y were studied in married couples with reproductive failure (200 individuals) and in control couples having normal children and no spontaneous abortions and stillbirths. Location of heterochromatic segments, their size and heteromorphism of homologues were estimated. The individuals with reproductive failure were carriers of variants of chromosomes 9 and acrocentrics with higher content of heterochromatic material as well as with heterochromatic chromosome 9 significantly more frequently as compared with control individuals.

Abortion, Habitual

An evaluation of cytogenetic analysis as a primary tool in the assessment of recurrent pregnancy wastage.

Cytogenetic evaluation of couples with recurrent pregnancy wastage is frequently performed only after other possible etiologic factors have been excluded. Previous reports of studies using conventional and G-banding chromosome techniques in these couples have shown a higher frequency of translocations than that found in the general population. In the study reported here, both conventional and G-banded chromosome analyses were performed as a primary method of evaluation in 34 couples with recurrent fetal loss not ascertained by the birth of a child with a diagnosed chromosome disorder. Balanced translocations were found in 5 partners of the 34 couples studied. In only 2 of these cases was the translocation detected by conventional chromosome analysis. These results suggest that G-banded chromosome analysis should be a useful tool in the initial evaluation of couples with recurrent fetal wastage, rather than being recommended only after extensive investigation of other factors is unrewarding. The reproductive counseling of couples with a translocation detected on this basis is discussed.

Abortion, Habitual

Genetic counseling and the pediatrician.

The assistance of the pediatrician, following diagnosis of a child with a genetic disorder, towards his family consists today in giving genetic counseling for prevention of recurrence in future pregnancies. The process of genetic counseling, once the right diagnosis is made, should not be difficult as concerns Mendelian inheritance. It is well known that several chromosomal disorders follow the rules of Mendelian inheritance. The theory of polygenic or multifactorial inheritance may create problems in the accurate estimation of risks. An effort is made to discover the mechanisms of genetic "predisposition" or the adverse environmental factors, in order to minimize the occurrence of such disorders. An important tool in prevention of several genetic disorders, which should be mentioned in genetic counseling, is prenatal diagnosis.

Chromosome Aberrations

Genetic counselling for neurological disorders.

When parents have a child with any problem, they usually become concerned about the chances of this problem recurring if they have further children, or of appearing in their grandchildren. Similarly, persons with any congenital disorder themselves or family history of such disorder, often worry about their future children. Genetic counselling can in most cases provide reassurance that there is little need for concern. In those instances where the risks are real, they can be put into perspective and often effectively circumvented by procedures such as prenatal diagnosis. Pregnant women of advanced age run increased risks of having children with chromosome disorders; it is of benefit to individual couples and to the community to refer such women for amniocentesis.

Adult

Quantitative assays of enzyme activity in single cells: early prenatal diagnosis of genetic disorders.

The combined use of special cell culture techniques and biochemical ultramicromethods permits one to handle very small amounts of materials, to reduce the costs of chemicals, and more accurately to assess gene dosage effects by expressing enzyme activities per cell instead of per total cell protein. An alkaline phosphatase induction test has been developed which allows one to screen small numbers of fibroblasts for lysosomal storage diseases, cystic fibrosis, and chromosomal disorders. A successful attempt has been made to automate the microtechniques. Combining the alkaline phosphatase induction with the ultramicro automatization should eventually permit one to screen all pregnancies for major possible fetal genetic defects. Automated ultramicro enzyme assays should contribute to the general development of clinical chemistry.

Alkaline Phosphatase

A review of cytogenetics in equine reproduction.

The karyotype of the horse consists of 64 chromosomes; 18 pairs have a terminal centromere and 13 pairs a non-terminal centromere. Identification of individual chromosomes is enhanced by the use of band-staining techniques which allow recognition of minor structural rearrangements of chromatin material. Seven previously reported cases of male pseudohermaphroditism with chromosome studies are reviewed. Three were genetic females, one was basically an XX/XY chimaera, one was an XX/XXY chimaera, and one was an XXXY. Also reviewed is an infertile mare with 63 chromosomes and no distinguishable sex chromosomes and a mare with juvenile genitalia and XO/XX sex chromosomes. It is postulated that, in the future, additional chromosome abnormalities will be found associated with maldevelopment of the equine reproductive system and as a cause of early embryonic death and abortion.

Animals

Height correlations between parents and mature offspring in normal subjects and in subjects with Turner's and Klinefelter's and other syndromes.

The correlations for stature between parents and grown-up offspring in 90 normal males and 116 normal females have been compared with similar correlations obtained in 27 adult males with Klinefelter's syndrome, 33 adult females with Turner's syndrome and in 75 adult patients with Down's syndrome. There was close similarity between the findings in the patients with sex chromosomal disorders and in normal subjects, a roughly constant amount of height being gained or lost through the chromosomal abnormalities. However the genetic pattern was lost in patients with Down's syndrome. In males with idiopathic precocious puberty and in untreated females with congenital adrenal hyperplasia, the parent-offspring correlations were not normal. In females with idiopathic precocious puberty they approximated normal values. The first two are pathological conditions of varying severity, whilst the majority of girls diagnosed as suffering from precocious puberty represent the extreme variant of normal.

Adrenocortical Hyperfunction

[Clinical morphological, cytogenetic and genealogical studies of patients with chronic monocytic leukemia].

The introduction in clinical practice of modern methods of cytogenetic assays offers new opportunities in studying the nature of leukemia. Up to date, however, no due attention was given to the recognition of chromosome disorders in patients with chronic monocytic leukemia (CML). Study on the karyotype in 20 patients with chronic monocytic leukemia indicated that chromosome anomalies lie in both the changed chromosome number and their structure, in the phase of marked clinical manifestations these changes being increased, while in the stage of remission--being reduced. A rather high incidence of malignancies in near relations of patients with CML supports a suggestion of the related pathogenetic mechanisms underlying leukemia and malignant tumors.

Diagnosis, Differential

Chromosomes and the gynecologist.

Recent advances in cytogenetic techniques made a valuable contribution toward the modern practice of obstetrics and gynecology. The state of the art regarding the application of these techniques is reviewed in the following areas: the clinical features related to the various sex and autosomal chromosomal anomalies, the cytogenetics of gynecologic malignancies, the chromosomal analysis of spontaneous abortion and of parents with habitual abortions. Chromosome studies in male infertility revealed abnormalities in 11.5 per cent of 69 patients with azoospermia and 9.1 per cent of 165 patients with oligospermia. Among 77 patients with primary amenorrhea, 27.3 per cent revealed chromosomal abnormalities compared to 3.8 per cent in 103 patients with secondary amenorrhea. The term "ovotesticular dysgenesis" is used for the first time in the literature to describe a specific histologic type of streak gonad which contains ovarian stroma and dysgenetic testicular tubules.

Abortion, Habitual