Survey of recent situation of chromosome pathology in different breeds of german cattle

Abstract

y asse z o D-6 3 oo Giessen (Bundesre p. Deutschland) Summary i. With the aim to elucidate the etiological role of chromosome anomalies in pathology of domestic animals karyotype analyses had been performed routinically in 8 47 newborn calves with congenital malformations, furthermore in adult cattle with hereditary diseases, andin individuals with malformations of genital organs. The investigations have been realized during the past 10 years within the three large breeds of the cattle population of Hessen. Chromosome anomalies of different types have been found in 141 probands. 2. Considering the impossibility in karyotyping all calves with congenital anomalies extensively, most of them being stillborn, and in regard of the impractibility of a cytogenetic exploration of whole the population, it seems to be impossible to derive more than rough estimations of the real frequencies of chromosome anomalies within the observed population. 3. The first rank of different types of chromosome anomalies is occupied by the z / 29 translocation, followed by the trisomy 1 8. (In this connection the XX /XY chimerism in freemartins is not taken in consideration because its frequency is depending exclusively from the frequencies of heterozygous twins within the different breeds). Considering their real frequencies both types of chromosome anomalies dont possess a noteworthy economical importance within the observed population in the present situation. All other chromosomal anomalies, especially autosomal structural defects, too, are found only sporadically, though accumulated in certain families. This is the case in bovine hereditary parakeratosis, and in hereditary nanism. 4. The occurrence of several probands with the trisomy 1 8 syndrome (lethal brachygnathia trisomy syndrome) in a family together with gonosomal numerical anomalies is estimated to be the expression of a familiar disposition to disturbances of meiosis, resp. mitosis. 5. On the basis of autopsy findings in 1 8 cases of trisomy i8 syndrome, and those of 9 cases of bovine hereditary parakeratosis the symptomatology of those, by chromosome anomalies caused, resp. with chromosome anomalies combined, syndromes was determined. Significantly increased frequencies of autosomal breaks in parents of parakeratosis calves may be used as markers in order to identify heterozygotes in families suspected of this hereditary disturbance of zinc metabolism. (1) This article has been presented to the 3 rd Colloquium of Cytogenetics of Domestic animals, May 3r-J!e 2 I 9 77, Jouy-en-Josas, France.

Equine half sibs with an unbalanced X;15 translocation or trisomy 28

“…with phenotypic expression varying from embryonic death to congenital malformation, behav ioural disturbance, or a fortuitous finding with no apparent clinical effect. In cattle, 19 cases of trisomy 18 have been reported by Herzog et al (1977). Two unbanded cases with similar congenital malformation were reported previously (Mori et al, 1969;Dunn and Johnson.…”

Sister chromatid exchanges in calves with hereditary zinc deficiency (lethal trait A 46)

“…The preparations were air-dried, stained for at least 30 minutes in 0.01 M acridine orange (Fluka) in distilled water, and mounted in 0. 16 …”

Chromosome-pairing in trisomic spermatocytes of males with normal or altered karyotypes

“…Among the cases of aneuploidy reported, the most frequent is the monosomy XO syndrome in mares (Cribiu, 1984;Long, 1988). There are also identified cases of trisomy X in cows (Pinheiro et al, 1987), the XXY syndrome in bulls (Sysa and Slota, 1984) and autosomal trisomics (Herzog et al, 1977;Mdkinen et al, 1987;Klunder et al, 1989 In the case of the bull, the trivalent detected in the trisomic spermatocyte was medium-sized (fig 1). One of these chromosomes was partly aligned with the completely synapsed bivalent.…”