Cytogenetic findings in a consecutive series of 478 patients with Turner syndrome. The Leuven experience 1965-1989

In this report, we present the cytogenetic findings in 478 patients with Turner syndrome diagnosed in Leuven in the period 1965-1989. The karyotypic anomalies are classified into seven groups: 1) classic, 45,X karyotype (52.1%); 2) mosaic 45,X/46,XX (10.9%); 3) mosaic 45,X/47,XXX and other "super-female" cell lines (4.6%); 4) isochromosomes i(Xq) and i(Xp) (16.1%); 5) ring chromosomes r(X) (4.4%); 6) other structural aberrations of the X chromosome (7.7%); and finally 7) mosaic 45,X/46,XY patients (4%). The most pertinent chromosomal findings are briefly discussed and compared with previous reported surveys on subject.     

Cytogenetic findings in Serbian patients with Turner's syndrome stigmata

Cytogenetic findings are reported for 31 female patients with Turner's syndrome. Chromosome studies were made from lymphocyte cultures. Non-mosaicism 45,X was demonstrated in 15 of these patients, whereas only three were apparently mosaic. Eight patients showed non-mosaic and four patients showed mosaic structural aberrations of the X-chromosome. One non-mosaic case displayed a karyotype containing a small marker chromosome. Conventional cytogenetics was supplemented by fluorescence in situ hybridization (FISH) with an X-specific probe to identify the chromosomal origin of the ring and a 1q12-specific DNA probe to identify de novo balanced translocation (1;9) in one patient. To our knowledge, this is the first finding of karyotype 45,X,t(1;9)(cen;cen)/46,X,r(X),t(1;9)(cen;cen) in Turner's syndrome. The same X-specific probe was also used to identify a derivative chromosome in one patient.     

Cytogenetic findings in over 2000 amniocenteses.

Between 1971 and 1981, 58 (2.8%) of 2037 amniocenteses performed in Vancouver revealed chromosome abnormalities, 25 of which were trisomy 21. Of the 58 referrals that yielded abnormalities, 37 (63.8%) were for a maternal age of 38 years or more. The rates of detection of such abnormalities for single-year intervals of maternal age beyond 35 years were comparable to those calculated from pooled data obtained in multicentre studies in the United States, Canada and Europe.     

Cytogenetic and clinical findings in mares with gonadal dysgenesis.

Gonadal dysgenesis in the mare is associated with several different karyotypes, including sex chromosome aneuploidy (63,X; 63,X/64,XX; 63,X/64,XY or 65,XXX), the normal male complement (64,XY) and autosomal deletion (64,XX?del2q-). The 63,X is the most common karyotype found in gonadal dysgenesis. Aneuploid cases probably represent spontaneous chromosome non-disjunction during oogenesis, spermatogenesis or early embryonic development. Cases with XY or autosomal deletion may be inherited defects or of spontaneous origin.     

Cytogenetic findings in 122 couples with recurrent abortions

Summary R-banded chromosome complements were analysed from 122 couples who had experienced three or more spontaneous abortions. Five women and one man were found to be carriers of translocations t(2;17), t(5;9), t(11;22), t(17;22), and t(13q14q). Two other karyotypes were abnormal: 46,XXq- and 47,XXX. Banded chromosome studies are recommended for couples with repeated abortions.     

Cytogenetic studies in patients treated with penicillamine.

Cytogenetic studies were performed on bone-marrow cells from 11 patients with rheumatoid arthritis treated with penicillamine. One of the patients was studied while developing a granulocytopenia and thrombocytopenia. The findings show that penicillamine had no chromosome-damaging effect as estimated by the micronucleus test and by the number of structural chromosomal aberrations.     

Cytogenetic findings in chronic myelogenous leukemia

Cytogenetic findings in chronic myeloic leukemia are represented in a survey. More than 90 per cent of CML are characterized by Ph1 chromosomes, with more than 90 per cent of the cases being involved in a translocation (9; 22). Further, non-incidental aberrations are +Ph1, isochromosome (17q) and +8 which particularly develop at the acute stage. Isochromosome 17q is assumed to be a marker for a straightly impending development of a blast crisis. Ph1-negative CML is connected with a comparatively bad prognosis for the patient. Partial trisomy 9q+ is indicated here as a marker chromosome. For the patient concerned congenital chromosome defects, such as the Down-syndrome, represent a higher risk of being affected with leukemia.     

Cytogenetic studies in 12 patients with itai-itai disease.

Among 12 Itai-Itai disease patients examined, 8 patients showed a remarkably high frequency of chromatid aberrations, whereas the other 4 patients showed a much lower frequency of such aberrations, although a significant number of stable type aberrations was observed also in the latter patients. The frequencies of aneuploid cells of all 12 patients were significantly higher than those of the controls. The abnormalities were found in 50-hour and 72-hour cultures, from which it can be concluded that the aberrations occurred in the blood stem cell of the patients. In addition to these structural and numerical aberrations, satellite associations of the D and G group chromosomes were often observed.     

Cytogenetic,clinical and genealogical analyses in a series of gonadal dysgenesis patients and their families

Summary 46 individuals, ascertained due to gonadal dysgenesis symptoms, were studied. 16 of them were 45, X and showed characteristics of Turner's syndrome. 15 proved to be chromosome mosaics and presented Turner's syndrome (12 cases), mixed gonadal dysgenesis (2) and gonadoblastoma (1). There were also 2 cases of pure gonadal dysgenesis and 13 patients with normal karyotypes. The clinical and genealogical data obtained from these individuals and their families were compared with 26 other series reported in the literature. Common malformations besides those related to sexual development are: short stature, abnormal nails, low implantation of hair, pigmented naevi, shield chest, short neck and cubitus valgus. Persons with 45,X karyotypes generally presented a more severe clinical picture than mosaics. The prevalence of twins is higher than expected among the patients' sibs in the cases reported here and in 3 of the 5 other series for which data are available.

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Zusammenfassung 46 Personen mit Symptomen der Gonadendysgenesie wurden untersucht. 16 von ihnen waren 45,XO und zeigten Symptome des Turner-Syndroms. 15 erwiesen sich als Chromosomenmosaiken; 12 von ihnen zeigten ebenfalls das Turner-Syndrom, 2 zeigten eine gemischte Gonadendysgenesie, während 1 Patient ein Gonadoblastom aufwies. Außerdem wurden 2 Fälle von einer Gonadendysgenesie und 13 Patienten mit normalem Karyotyp beobachtet. Die klinischen und genealogischen Daten von diesen Patienten und ihren Familien wurden mit denen aus 26 Literaturserien verglichen. Außer den Störungen der sexuellen Entwicklung sind die folgenden Mißbildungen häufig: Kleinwuchs, abnorme Nägel, niedrige Haargrenze, Pigmentnaevi, schildförmiger Torax, kurzer Hals, Cubitus valgus. Im allgemeinen zeigen Personen mit 45,XO-Karyotypen ein schwereres klinisches Bild als Mosaiken. Unter den Geschwistern der Patienten finden sich Zwillinge häufiger als erwartet; das gilt auch für 3 der 5 anderen Serien, für die Daten verfügbar sind.

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Née Suñé.     

Cytogenetic findings in 4952 prenatal diagnoses. An Italian collaborative study

Summary The development of prenatal diagnosis in Italy was made difficult by the restrictions of the old abortion law and only in recent years has a consistent number of cases been investigated. We report the experience on prenatal chromosome diagnosis of ten Italian centers participating in a collaborative study on 4952 diagnoses performed from 1972 to 1980. The main indication groups were: advanced maternal age (2882 cases), previous child with chromosome anomaly from parents with normal karyotype (847 cases), and chromosome anomaly in one parent (97 cases). The other indications for amniocentesis, including cases without a cytogenetic risk, have been assembled into a miscellaneous group (1126 cases). We found 125 abnormal fetal karyotypes (2.5%) of which 89 were unbalanced (1.8%). The frequencies and types of chromosome anomalies are reported in detail for each indication group and are compared with the corresponding ones from the European Munich Conference. The great majority of these Italian data were not included in the Munich report.     

A prospective cytogenetic study of 36 cases of DiGeorge syndrome

Cytogenetic analysis was carried out in a prospective series of 36 children with DiGeorge syndrome. High-resolution banding (> 850 bands/haploid set) was achieved in 30 cases. Monosomy 22q11.21-->q11.23 was found in 9 of these 30 cases. In each of these cases monosomy 22q11.21-->q11.23 resulted from an interstitial deletion and not from a translocation. No other chromosome abnormalities were seen.     

Cytogenetic findings in pernicious anaemia. Comparison between results obtained with chromosome studies and the micronucleus test.

To elucidate whether the micronucleus test may be a sensitive test for the demonstration of the occurrence of spontaneous structural chromosomal aberrations in human disease, bone-marrow smears and chromosome preparations were studied from ten patients with pernicious anaemia. An increased incidence of metaphases with structural chromosomal aberrations was seen in three of the patients, whereas an increased number of bone-marrow cells containing micro-nuclei was present in eight of the ten patients. The micronucleus test may thus be a rapid and sensitive test to demonstrate whether spontaneous structural aberrations of the chromosomes are present in a group of patients suffering from various diseases.     

Mortality in patients with haematemesis and melaena: a prospective study.

In a prospective study of death in 817 patients with haematemesis and melaena admitted on 894 occasions, the protocol included admission of all patients to a defined unit, early endoscopy and resuscitation, and planned management. Over the three consecutive two-year periods of the study mortality significantly decreased from 9% to 2.4%. Although the operative rate remained the same, the operative mortality fell from 16% to 1.6%. The fall in mortality was greatest in patients with bleeding gastric ulcers. These results suggest that prospective studies with a defined policy can influence the mortality in patients with upper gastrointestinal bleeding.     

Cytogenetic investigation of patients with primary amenorrhea

Primary amenorrhea refers to absence of spontaneous menarche even after the age of 16. Cytogenetic analysis in two cases with primary amenorrhea, short stature, poorly developed secondary sexual characteristics, and growth retardation were studied. Routine GTG-band analysis of metaphases from peripheral blood leucocytes revealed female karyotype with a 15(ps+) and an isochromosome of X, i(Xq), in one patient and 46,X, i(Xq), in another patient. Ascertainment of the karyotype aided in confirmation of the provisional diagnosis, a better phenotype-genotype correlation to understand clinical heterogeneity in genetic counseling.     

Aspirin and coronary heart disease: findings of a prospective study.

Over 1 000 000 men and women answered a confidential questionnaire and were traced for up to six years afterwards. Among other questions each person was asked how often he or she took aspirin-"never", "seldom," or "often." Coronary heart disease death rates were no lower among people who took aspirin often than among those who did not do so.