Biomedical subjects
Publications and source records attributed to I Ferrari.
An unusual case of mental retardation and physical malformations with chromosome abnormalities in a 9 year old boy is reported. Chromosomal analysis showed either breakage and delation from some gens to 5p and/or 13q; genic mutation or, perhaps, efect of position in re-adjusted chromosomic segments.
One boy with Down's syndrome was found to be a rearranged chromosome 21q/21q. Cytogenetic analysis by G-banding techniques did not show if the rearranged chromosome was a translocation or an isochromosome. The karyotype of both parents was normal.
A case of neuromotor retardation in association with chromosome 1qh's reported. Chromosomes analysis of the patient and three relatives showed increased long arm on the n. degrees 1 chromosome, in all of them. However it is wmphasized that the clinical feautre could be secondary to various non genetics factors, also.
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Strategies to construct the physical map of the Trypanosoma cruzi nuclear genome have to capitalize on three main advantages of the parasite genome, namely (a) its small size, (b) the fact that all chromosomes can be defined, and many of them can be isolated by pulse field gel electrophoresis, and (c) the fact that simple Southern blots of electrophoretic karyotypes can be used to map sequence tagged sites and expressed sequence tags to chromosomal bands. A major drawback to cope with is the complexity of T. cruzi genetics, that hinders the construction of a comprehensive genetic map. As a first step towards physical mapping, we report the construction and partial characterization of a T. cruzi CL-Brener genomic library in yeast artificial chromosomes (YACs) that consists of 2,770 individual YACs with a mean insert size of 365 kb encompassing around 10 genomic equivalents. Two libraries in bacterial artificial chromosomes (BACs) have been constructed, BACI and BACII. Both libraries represent about three genome equivalents. A third BAC library (BAC III) is being constructed. YACs and BACs are invaluable tools for physical mapping. More generally, they have to be considered as a common resource for research in Chagas disease.
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Cytogenetic studies were carried out on 24 newborns with single umbilical artery (SUA), whereas dermatoglyphic analysis were performed on 14 of them. Metaphase examination showed increased size of the short arm of an acrocentric chromosome of group D or of group G in 6 of the 24 SUA babies studied. Numerous chromosome breaks were detected in one other case. Dermatologlyphic data showed that the total finger ridge count did not deviate from normal patterns, whereas the aTd angle showed increased values in 5 of the 14 cases studied. The absence of major chromosome aberrations does not exclude the possibility of chromosomal etiology for SUA, since the increased frequency of acrocentric polymorphism found in the present series and the 5 cases of increased aTd angle suggest such an occurrence.
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