Biomedical subjects

B Dallapiccola

Publications and source records attributed to B Dallapiccola.

At least 397 records · Page 22Linked to original sources

PubMed1976

Complex translocation t(9;21)(9;22)(q12p13)(q12q11) in the family of a child with 9p trisomy syndrome.

A case of partial trisomy 9 is described in a mentally retarded and dysmorphic child, confirming that this chromosome unbalance results in a characteristic clinical entity. This trisomy arose through aberrant segregation of translocation chromosome during meiosis in the patient's mother, who is a balanced heterozygote for a complex translocation involving chromosomes 9, 21 and 22. The phenotypically normal sister of the proposition is also carrier of the same complex translocation.

Child↗

PubMed1976

Centric fission of chromosome no. 4 in the mother of two patients with trisomy 4p.

Centric fission of chromosome No. 4 was found in the healthy mother of two children with trisomy 4p. The two telocentrics derived are stable and show no evidence of fusing again. The 2:3 ratio of unbalanced offsprings born to the proposita indicates that, contrary to the evidence emerging from studies in other species, the risk for the production of unbalanced gametes is high.

Adult↗

PubMed1976

Trisomy 4p syndrome.

Explore the source record for details and available documents.

Chromosome Aberrations↗

PubMed1975

Ring chromosomes and leukaemia.

The observation of 2 leukaemic patients with ring chromosomes, and their comparison with a few previously reported cases, suggests a close association between this rare chromosomal abnormality and erythroleukaemia and indicate a poor prognostic significance of this finding.

Aged↗

PubMed1975

The radiological pattern associated with the trisomy of the short arm of chromosome No 4.

A fairly constant constellation of roentgen anomalies has been detected in the skeleton of 9 patients with the trisomy of the short arm of chromosome No 4. The more common changes involve the skull, spine and pelvis, while the limbs, as well as the internal organs, are less affected. Microcephaly, hypertelorism, small and closed sella, malocclusion, scoliosis, "square" vertebral bodies, narrow iliac wings, wide iliac angles and narrow acetabular ones, coxa valga, medial recumbency of the proximal tibial epiphysis and retarded bone age are usual findings.

Chromosome Aberrations↗

PubMed1975

Observations on specific giemsa staining of the Y and on selective oil destaining of the chromosomes.

The human Y chromosome can be differentially stained with Giemsa using simple procedures. This phenomenon is strikingly to that observed with quinacrine fluorescence. The specific Giemsa-Y stain may be selectively removed by the action of an oil. The same oil, under certain conditions, selectively removes Giemsa stain from all chromosomes, resulting in R- and T-banding patterns. These bands, which are obtained through subtraction of dye from Giemsa-stained chromosomes, allow slides to be further processed.

Heterochromatin↗

PubMed1975

Trisomy 2q.

Two unrelated patients with trisomy 2q32 leads to q37, resulting from maternal balanced translocations t(2; 13) (q32 q33) and t(2; 15) (q32 q26) are reported. Conparison of the clinical findings suggests that trisomy 2q is associated with a rather characteristic constellation of symptoms and malformations.

Abnormalities, Multiple↗

PubMed1975

Leucocyte morphology and chromosome morphology.

The banding techniques currently employed in human cytogenetics for the identification of the individual chromosomes have been used to stain PHA lymphocytes and circulating leucocytes. The capacity of these techniques to localize singular chromosomes or chromosomal regions has been investigated. It has been observed that among the four major categories of bands (Q, G, E and R) only the quinacrine staining is informative in interphase nuclei, because of its peculiarity to stain the long arm of the Y chromosome and few other heterochromatic regions. Interphase nuclei treated according to the C-bands show the presence of several heterochromatic masses, corresponding to the centromeric areas of individual chromosomes, but as such they cannot be recognized accurately. More specific and selective techniques, like G-11 and G-Y protocols, appear to be suitable to localize the centromeric regions of chromosome no. 9 and and long arm of Y chromosome. Variation of the incubation time in the alkali-saline solutions and of pH values have proven to be appropriate for the demonstration of other heterochromatic regions in interphase nuclei and in circulating leucocytes. The "nuclear" approach to study of specific heterochromatic regions of human chromosomes may be of practical interest into the investigation of several biological problems and into the detection of individuals carrying chromosome variants.

Cell Nucleus↗

PubMed1974