RESUMO
Chromosome studies of 242 spontaneous abortions were carried out by Q-banding technique. The abortuses were selected for study because they were phenotypically abnormal, had not progressed beyond 12 weeks development or were from women with repeated abortions. Chromosome anomalies were found in 126 (52%) of the abortuses. Of these, 71 (56%) were trisomies. Trisomies were found for all the autosomes except Nos. 1, 3, 5, 11, 17 and 18. Triploidy was the second commonest anomaly in this series, making up 26 (21%) of the total anomalies. About 70% of these had an XXY sex chromosome complement. Only 16 (13%) of the abortuses had X monosomy, a lower frequency than would be expected in an unselected study. Tetraploidy was found in 8 abortuses and the 5 remaining specimens had various anomalies. These included 3 translocations, a trisomy 21,X monosomy and a ring chromosome 13. Except for the greater frequency of XXY than XXX sex chromosomes in the triploids, there was no evidence of a distortion of the sex ratio, either among the trisomic or among the chromosomally normal abortuses.
Assuntos
Aborto Espontâneo/genética , Aberrações Cromossômicas , Bandeamento Cromossômico , Feminino , Humanos , Cariotipagem , Poliploidia , Gravidez , Translocação Genética , TrissomiaRESUMO
Chromosome analysing using quinacrine fluorescence was performed on 930 consecutive newborn infants. The total incidence of major chromosome aberrations including numerical changes of the sex chromosomes, and structural changes of autosomes, was 0.54%. Incidence of XYY (0.4%) and XXY (0.2%) were relatively higher as compared to other studies. About 0.75% of the newborn infants were found to have a variable bright fluorescent band located on the proximal area of the short arm (p11) rather than on the proximal long arm (q11) of chromosome No. 3. Attempts were also made to record the variable fluorescent regions on 7 autosomes and the Y chromosome.
Assuntos
Aberrações Cromossômicas , Transtornos Cromossômicos , Recém-Nascido , Aberrações Cromossômicas/epidemiologia , Inversão Cromossômica , Cromossomos Humanos 1-3 , Cromossomos Humanos 13-15 , Cromossomos Humanos 21-22 e Y , Cromossomos Humanos 4-5 , Feminino , Variação Genética , Humanos , Masculino , Ontário , Quinacrina , Cromossomos Sexuais , Coloração e Rotulagem , Translocação GenéticaRESUMO
In a study of 514 spontaneous abortions, 194 were found to have a chromosome anomaly. Of these, 4 (2.1%) were unbalanced translocations. Three of the translocations were Robertsonian (13q14q) and one was reciprocal. Each translocation was ascertained independently and each was associated with a balanced rearrangement in a carrier parent.
