Assuntos
21003 , Masculino , Feminino , Saimiri/classificação , Citogenética , Aberrações Cromossômicas , Cromossomos/análise , Cariotipagem , Fenótipo , Panamá , Guiana , Costa RicaAssuntos
21003 , Criança , Pré-Escolar , Feminino , Humanos , Masculino , Lactente , Aberrações Cromossômicas , Síndrome de Budd-Chiari/genética , Intoxicação por Plantas/genética , Hepatomegalia/genética , Fibroblastos/citologia , Síndrome de Budd-Chiari/induzido quimicamente , Doença Hepática Induzida por Substâncias e Drogas/etiologia , Doença Hepática Induzida por Substâncias e Drogas/genética , Jamaica , Plantas Medicinais , Linfócitos/citologia , Mitose , Alcaloides de PirrolizidinaRESUMO
Some pyrrolizidine alkaloids have been shown to have nuclear toxicity in vitro. Fulvine was therefore investigated for its effect on mitotic chromosomes in the rat and in man. In vitro studies were performed on rat fibroblasts and human and rat peripheral blood cultures. In vivo studies were performed by injecting mature rats subcutaneously with 0.08mg/gm body weight in fulvine. Control animals received the identical dilutant. Blood cultures were established 24 and 48 hours, and 8 days later. Nine children with histologically proven veno-occlusive disease (VOD) and eight controls were studied by 48-hour blood cultures, for changes in chromosome number and morphology. The in vitro studies were negative. In vivo studies in rats showed marked mitotic depression at 24 and 48 hours. On the seventh day, breaks, gaps exchanges and rearrangements were seen in 24 percent of cells. VOD was found in 5 rats. Of the children, three sibs, and two others showed similar abnormalities marked in the former and less so in the latter. These findings are very suggestive of induction of chromosome abnormalities by fulvine or by VOD. The frequency of these changes may be related to dosage levels, intervals between ingestion and examination, or to familial reactions to the drug (AU)
Assuntos
Humanos , 21003 , Criança , Ratos , /efeitos adversos , Cromossomos/efeitos dos fármacos , Alcaloides de Pirrolizidina/efeitos adversos , Aberrações Cromossômicas/induzido quimicamenteRESUMO
A cytogenetic study of the children attending the school and home of the Jamaican association for Mentally Handicapped Children was undertaken in order to ascertain paritcular sex chromosome abnormalities in males. Eighty-five unselected children were studied. To this group were added 18 children had referred from Paediatric Clinics over the age of 3 because of mental retardation. These were selected, as not all retarded are referred. The children had a physical examination, buccal smears and chromosome studies. The age range was 30-40 years. An attempt at assessment of mental development was made, to divide them into mildly retarded, moderately retarded and severely retarded. There were 75 males and 28 females of which 14 were mildly retarded, 83 moderately retarded and 6 severely retarded. Chromosomal abnormalities were found in 25 children. Of these 18 had trisomy 21, one had 47, XXY and one 47, XYY. Two children with apparently balanced translocations, and 2 with anomalies involving the short arms of the aerocentric chromosomes were found. There was one boy with Fanconi's syndrome of pancytopenia and congenital anomalies. In addition clinical diagnosis of Turner's syndrome in the male, Rubenstein-Taybi syndrome and congenital rubella were made in children without chromosome abnormalities. As might be expected, the mildly retarded group yeild only sex chromosome abnormalities and Fanconi's anaemia, the numbers being too small to draw any conclusions. All the remaining patients with autosomal anomalies occured in the moderately retarded group making up 25 percent of this group, of which 22 percent were mongols. Excluding the mongols from the total number of children, 6 percent of the children had autosomal anomalies, twice the percentage found in surveys of "unselected normal" adults (AU)
Assuntos
Humanos , Masculino , Feminino , Pré-Escolar , Criança , Deficiência Intelectual/genética , Jamaica , Aberrações dos Cromossomos Sexuais , Aberrações Cromossômicas , Translocação Genética , Síndrome de Fanconi , Síndrome de Turner , Síndrome de Rubinstein-Taybi , Síndrome da Rubéola CongênitaAssuntos
Adulto , Feminino , Humanos , Lactente , Recém-Nascido , Masculino , Aberrações Cromossômicas , Aberrações Cromossômicas , Cromossomos Humanos 13-15 , Cromossomos Humanos 16-18 , Recombinação Genética , Anormalidades Múltiplas , Autorradiografia , Cromossomos Humanos 4-5 , Cariotipagem , TrissomiaRESUMO
Between April, 1964 and December, 1968, we have performed buccal smears and chromosome studies on a total of 46 patients with primary and secondary amenorrhoea and oligomenorrhoea. RESULTS: (1) Secondary amenorrhoea - 4 cases. All had normal chromosomes, all were over 62" in height, with normal build and sexual development. (2) Oligomenorrhoea - 10 cases. Five had moderate degrees of virilisation. One of these had chromosomal findings suggestive of XX/XO mosaicism. Five patients had normal secondary sex characteristics and had normal chromosomes. All 10 patients were 60" or more in height. (3) Primary Amenorrhoea 32 patients. These can be divided into 3 clinical groups. (a) Those with sexual infantilism - 21 cases. Of these, 10 showed sex chromosomal abnormalities. Six of these were less than 60" and hibited other features suggestive of gonadal dysgenesis. Of the 11 with normal chromosomes, 4 were under 57" in height and 3 of these were mentally retarded. (a) Those with sexual infantilism - 21 cases. Of these, 10 showed sex chromosomal abnormalities. Six of these were less than 60" and exhibited other features suggestive of gonadal dysgensis. Of the 11 with normal chromosomes, 4 were under 57" in height and 3 of these were mentally retarded. (b) Patients with virilisation - 7 cases. All these patients were small in size, around 60 to 63 inches in height, but were not dwarfed. Two were found to have congenital adrenal hyperplasia. The others have not all been fully investigated for this condition. (c) Normal secondary sex characteristics - 4 cases. Three had normal chromosomes. One patient had 46xx but a small line showed a small chromosomal fragment. Laparotomy revealed normal ovaries. Two other patients in this group had atresia of the vagina and cervix. CONCLUSION: 34 percent of patients with primary amenorrhoea have chromosmal abnormalities. Chromosome studies are, therefore, indicated in all such patients and probably some with oligomenorrhoea. All patients except those found to have congenital adrenal hyperplasia should have either full genital tract examinations or gonadal exploration, the former being indicated if there are normal secondary sex characteristics, and the latter if there is infantilism or virilisation not explained by congenital adrenal hyperplasia (AU)
Assuntos
Humanos , Feminino , Amenorreia , Cromossomos , Aberrações Cromossômicas , OligomenorreiaRESUMO
Recently there has been increasing interest in cannabis because of its widespread consumption and a request for medical research on the drug has been made. Like L.S.D., cannabis is a psychotomimetic hallucinogen as well as a potent teratogen in some experimental animals. The possibility of the existence of a teratogenic effect of L.S.D. and cannabis in humans has been raised independently by investigators in this area. Studies on the in vivo and in vitro effect of L.S.D. on chromosomes indicate elevated frequencies of chromosomal breaks by the drug and radiomimetic properties with breaks persisting after many weeks of ingestion. In view of the harmful consequences of chromosomal breaks, namely foetal wastage, malignant tumours and congenital malformations, it was though that the effect of cannabis on chromosomal division should be investigated. RESULTS: The addition of cannabis of cultured rat and human leukocytes at high concentration resulted in mitotic inhibition. However, there was no significant increase of chromosomal abnormalities. In tissue culture of embryonic rat fibroblasts, mitotic inhibition also occurred. From in vivo studies of embryos whose motheres were treated with teratogenic dosage of cannabis, no chromosomal abnormalities were detected after short-term tissue culture of the embryos. CONCLUSION: It seems likely from the above that the teratogenic effect of cannabis in rats is not due to the production of chromosomal abnormalities, but it might be due to inhibition of mitosis affecting the proliferation of cells(AU)
Assuntos
Humanos , Ratos , Cannabis , Citogenética , Aberrações Cromossômicas , AlucinógenosRESUMO
Two patients with abnormalities of the long arm of a B autosome are described: an infant with multiple abnormalities, physical and histological, and a phenotypically normal adult male with a family history of high infant loss and the father of 4 abortions. In the first case the abnormality was due to a balanced translocation in the mother and grandfather, between a B and a C autosome. In the second case there was mosaicism, but the origin of the abnormality was not determined. The abnormalities in the first case are compared with other previous reports of abnormalities of C and B chromosomes, and the segregation of gametes in the family is discussed.(AU)
Assuntos
Humanos , Gravidez , Recém-Nascido , Adulto , Masculino , Feminino , Aborto Habitual/etiologia , Aberrações Cromossômicas , Aberrações Cromossômicas , Cromossomos Humanos 4-5 , Anormalidades Múltiplas/etiologia , Citogenética , Cariotipagem , Fígado/patologia , Mosaicismo , FenótipoRESUMO
Cytological and cytogenetic observations are recorded on Jamaican dogs with spontaneous transmissible venereal tumour. Fixed tissue from 22 dogs was examined for pathological study and sex chromatin, and fresh tissue and exudate from the tumour from 9 dogs were examined for cytological features, and chromosome studies. The pathological appearances exclude this tumour from the lymphoma group and show 2 distinct cells, the tumour cell and a lymphoid element. These 2 cell types are seen in the exudate and fresh tissue. The lymphoid cells show no sex chromatin body. The tumour cells show a body which occurs independently of the sex of the animal in 10-30 percent of cells and is thought to be a nucleolus. The chromosome number and karyotype is 58 or 59 with a similar pattern to that seen in the United States and Japan. The aetiology is discussed in the light of these findings and the relative isolation of Jamaica in the canine world.(AU)
Assuntos
Cães , 21003 , Masculino , Feminino , Doenças do Cão , Neoplasias Vaginais/veterinária , Neoplasias Penianas/veterinária , Aberrações Cromossômicas , Citogenética , Jamaica , Cariotipagem , Neoplasias Penianas/patologia , Neoplasias Vaginais/patologia , Cromatina SexualRESUMO
A classification of Madelung's deformity on an etiological basis is suggested. Seven patients with "idiopathic" Madelung's deformity and one occurring in asssociation with Turner's syndrome are discussed. Cytogenetic studies of five patients are recorded and their significance discussed. Arthrodesis of the radio-carpal joint by the "wedge" technique is preferred for those patients whose symptoms warrant treatment.(AU)
Assuntos
Humanos , Adolescente , Adulto , Pessoa de Meia-Idade , Feminino , Aberrações Cromossômicas , Rádio (Anatomia)/anormalidades , Ulna/anormalidades , Punho/anormalidades , Luxação Congênita de Quadril/complicações , Síndrome de Turner/complicaçõesRESUMO
A brief history of cytogenetics has been given and some of the techniques currently in use have been described. The clinical syndromes which may be associated with abnormalities of the chromosomes have been mentioned, demonstrating that they fall into all branches of medical practice. From April to September, 1964, twenty patients have had cytogenetic investigations, eighteen with successful results. These include cases of Turner's Syndrome, male hypogonadism, female pseudohermaphroditism, possible cases of mongollism, one case of primary amenorrhoea, syndromes of multiple congenital abnormalities, acute leukemia and Waldenstrom's Macrogliobulinaemia. This sample of clinical conditions probably represents a selection due to the interest and awareness of clinicians at the present time, rather than a reflection of their true incidence in the hospital or general population. It seems likely that the frequency and variety of these conditions will change as more clinicians become aware of the assistance that cytogenetic investigation can give (AU)