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Biomedical subjects

N Archidiacono

Publications and source records attributed to N Archidiacono.

100 records · Page 6Linked to original sources
PubMed1977

A new translocation involving chromosomes no. 5 and no. 12 t(5;12) (5q15;12p13).

A new case of translocation between chromosomes No. 5 and No. 12 is described. The translocation t(5;12) (5q15;12p13) is apparently balanced and was found in a child aged 3 1/2 years who was affected with severe psychomotor retardation. On the basis of the clinical picture it is suggested that the phenotype could be not dependent on the chromosomal alteration.

Child, Preschool↗
PubMed1976

Nucleolus organizer and satellite association in a variant D-group chromosome.

A No. 15 chromosome with a short arm longer than usual is observed in two phenotypically normal brothers. This chromosome appears to have no visible satellite, shows no N-band staining, and is never involved in satellite association. These results have led us to the conclusion that this chromosome lacks the nucleolus organizer region.

Cell Nucleolus↗
PubMedDate not supplied

Prenatal diagnosis of the fragile-X in male monozygotic twins: discordant expression of the fragile site in amniocytes.

A prenatal diagnosis of the fragile-X syndrome in monozygotic male twins is reported. The expression of the fragile site was discordant in amniotic cells. Fetal blood and, after therapeutic abortion, skin fibroblasts were positive in both fetuses. Our data suggest that great care should be taken when using amniocytes for prenatal diagnosis of the fragile-X syndrome.

Adult↗
PubMedDate not supplied

Divergent origins and concerted expansion of two segmental duplications on chromosome 16.

An unexpected finding of the human genome was the large fraction of the genome organized as blocks of interspersed duplicated sequence. We provide a comparative and phylogenetic analysis of a highly duplicated region of 16p12.2, which is composed of at least four different segmental duplications spanning in excess of 160 kb. We contrast the dispersal of two different segmental duplications (LCR16a and LCR16u). LCR16a, a 20 kb low-copy repeat sequence A from chromosome 16, was shown previously to contain a rapidly evolving novel hominoid gene family (morpheus) that had expanded within the last 10 million years of great ape/human evolution. We compare the dispersal of this genomic segment with a second adjacent duplication called LCR16u. The duplication contains a second putative gene family (KIAA0220/SMG1) that is represented approximately eight times within the human genome. A high degree of sequence identity (approximately 98%) was observed among the various copies of LCR16u. Comparative analyses with Old World monkey species show that LCR16a and LCR16u originated from two distinct ancestral loci. Within the human genome, at least 70% of the LCR16u copies were duplicated in concert with the LCR16a duplication. In contrast, only 30% of the chimpanzee loci show an association between LCR16a and LCR16u duplications. The data suggest that the two copies of genomic sequence were brought together during the chimpanzee/human divergence and were subsequently duplicated as a larger cassette specifically within the human lineage. The evolutionary history of these two chromosome-specific duplications supports a model of rapid expansion and evolutionary turnover among the genomes of man and the great apes.

Animals↗