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91.
The authors report a familial case of exomphalos affecting a mother and her daughter; they discuss the possibility of a dominant transmission. 相似文献
92.
We examined chromosomal distribution of major ribosomal DNAs (rDNAs), clustered in the nucleolar organizer regions (NORs),
in 18 species of moths and butterflies using fluorescence in situ hybridization with a codling moth (Cydia pomonella) 18S rDNA probe. Most species showed one or two rDNA clusters in their haploid karyotype but exceptions with 4–11 clusters
also occurred. Our results in a compilation with previous data revealed dynamic evolution of rDNA distribution in Lepidoptera
except Noctuoidea, which showed a highly uniform rDNA pattern. In karyotypes with one NOR, interstitial location of rDNA prevailed,
whereas two-NOR karyotypes showed mostly terminally located rDNA clusters. A possible origin of the single interstitial NOR
by fusion between two NOR-chromosomes with terminal rDNA clusters lacks support in available data. In some species, spreading
of rDNA to new, mostly terminal chromosome regions was found. The multiplication of rDNA clusters without alteration of chromosome
numbers rules out chromosome fissions as a major mechanism of rDNA expansion. Based on rDNA dynamics in Lepidoptera and considering
the role of ordered nuclear architecture in karyotype evolution, we propose ectopic recombination, i.e., homologous recombination
between repetitive sequences of non-homologous chromosomes, as a primary motive force in rDNA repatterning. 相似文献
93.
94.
Triphalangeal thumb and split foot in the same family 总被引:1,自引:0,他引:1
The authors report a family with triphalangeal thumb with nail hypoplasia: one of them has also split feet. They believe that the existence of such families must make very circumspect with regard to genetic counseling for a minor problem such as triphalangeal thumb. 相似文献
95.
96.
Abstract: Comparative genomic hybridization (CGH) with a probe mixture of differently labeled genomic DNA from females and males highlighted the W chromosomes in mitotic plates and the W chromatin in polyploid interphase nuclei of the silkworm Bombyx mori, the flour moth Ephestia kuehniella, and the wax moth Galleria mellonella. The overproportionate fluorescence signal indicated an accumulation of repetitive sequences in the respective W chromosomes. Measurements of the fluorescence signals revealed two components, one that is present also in male DNA (non-W chromosomes) and another one that is present only in or preponderantly in female DNA (W chromosomes). While the W chromosomes of E. kuehniella and G. mellonella had both components, that of B. mori appeared to lack the latter component. Our results show that CGH can be applied to obtain a first estimate of the sequence composition of sex chromosomes in species from which otherwise little is known on the molecular level. 相似文献
97.
B Le Marec S Odent E Bracq M B Bulard J Bourdinière J M Babut 《Annales de génétique》1988,31(3):155-161
Three cases of oto-palato-digital syndrome (OPD) are described. They are from the same family, in which the syndrome is an X linked recessive disorder, transmitted through five generations. These cases are classified rather in the OPD type I. The limit between OPD I and II is discussed. The hypothesis of two allelic genes is suggested. 相似文献