Trisomy 26 mosaicism in a sterile Holstein-Friesian heifer.
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Biomedical subjects
Publications and source records attributed to H Berland.
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Four new chromosomal rearrangements are reported in the domestic pig: 3 reciprocal translocations, rcp(4;12)(p13;q13) in a crossbred boar, rcp(1;7)(q17;q26) in a Large White purebred boar, rcp(1;6)(q17;q35) in a purebred synthetic paternal line boar, and a pericentric inversion inv(2)(p13q11) in a crossbred boar. The 1/7 reciprocal translocation and the pericentric inversion were detected in animals that had sired small litters. The effect of the 1/7 translocation was accurately determined: -4.5 piglets born per litter, i.e. -36%. Both the 1/6 and 1/7 reciprocal translocations were of maternal origin. All the chromosomal rearrangements were highlighted using GTG and/or RBG banding techniques. Chromosome painting experiments were also carried out to confirm the proposed hypotheses for the three reciprocal translocations.
A boy and his father with the hypertelorism-hypospadias (BBB) syndrome are described. This example of male-to-male transmission is evidence that the BBB syndrome is not due to an X-linked gene.
A case of superficial diffuse nephroblastomatosis involving both kidneys in a 14-months old child is reported. Urographic and arteriographic results as well as the still little-known ultrasonographic images made it possible to determine pre-operatively the nature of the tumour and to exclude the initial diagnosis of Wilm's tumour. A relatively non-aggressive chemotherapy resulted in complete involution of the subcapsular tumoral envelope. The close embryogenic and oncogenic relationship between nephroblastoma and nephroblastomatosis is recalled.
A study was carried out on hyperglycaemia induced by intravenous administration of glucose between the 1st and 4th day of life in healthy new-born infants and in underweight newborns. The blood glucose level in underweight infants is slightly lower than that in healthy new-born infants. The level of insulin in the blood is much lower in the underweight child after 30 minutes. Although the levels of insulin and Glucagon in the blood vary between the two groups the ratio of Glucagon to insulin is constant and evolves constantly. The ratio is higher the more underweight the child is. It is possible that this can help to maintain the level of blood glucose sufficiently high in the underweight new-born infant.
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Three bulls of the Montbéliarde breed that exhibited fertility rates lower than 30% following more than 400 artificial inseminations were examined. Semen quality (sperm motility and morphology) from these bulls was normal. Fertilizing ability estimated from in vitro embryo production results was studied for two of them. In vitro production rate was very low for one bull (A) and normal for the other (B). Cytogenetic analyses were carried out on the three bulls using chromosome banding techniques. These analyses revealed a reciprocal translocation (12;17)(q22;q14) in bull B. Based on family analyses, the hypothesis of a de novo origin of this rearrangement is proposed.
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