Search PubMed⌕ Search

Biomedical subjects

A Forabosco

Publications and source records attributed to A Forabosco.

At least 91 records · Page 5Linked to original sources
PubMed1981

Serum immunoglobulins and lymphocyte subpopulations derangement in Turner's syndrome.

Abnormalities of the proportions of peripheral blood lymphocyte subpopulations and of immunoglobulin serum levels were found in twenty patients affected by Turner's syndrome. A slight but significantly decreased percentage of circulating T and B cells, and increased percentage of null cells and a decreased in vitro responsiveness of lymphocytes to phytohaemagglutinin, concanavalin A and pokeweed mitogen were found in Turner's syndrome patients. IgG serum level was found significantly decreased in comparison with age-matched fifty-seven normal males and fifty-seven normal females and IgM serum level was intermediate between female and male values; Turner's syndrome patients with monosomy had an IgM serum concentration very close to male values. The derangement of T and B lymphocyte subpopulations, probably related to the aneuploidy, does not seem to be a severe one but it could account for the immunoglobulin abnormalities and for the association of Turner's syndrome with immunological disorders such as autoimmune diseases. The role of X chromosome on IgM serum level is discussed.

Adolescent↗
PubMed1980

Mosaicism for an extra small ring chromosome.

A new case for mosaicism for an extra small ring chromosome is described in a 13-year-old girl with minimal phenotype anomalies and moderate mental retardation. The origin of the extra chromosome could not be determined either cytogenetically or clinically. The present case is compared with six similar cases in the literature.

Adolescent↗
PubMed1977

Endocrine aspects of trisomy 4p.

The main endocrinological parameters were investigated in two sisters affected with trisomy 4p. Our findings rule out any impairment of the endocrine system in this rare syndrome, even in those cases in which stunting of growth is more pronounced. The marked weight deficit in one of the two patients had no relationship to the chromosomal anomaly; it was determined by the association of a deficit of immunoglobulin with a Giardia Lamblia infestation.

Adolescent↗
PubMed1977

Ocular phenotype in partial trisomy 10 q.

A list of the ocular signs of the partial trisomy 10 q, which is drawn up according to the literature, is not satisfactory as almost only the external appearance of the eyes and their adnexa is considered. The authors report the case of a child still living, whose visual function could be evaluated by subjective and objective (electrophysiological) methods.

Abnormalities, Multiple↗
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

Interactive system for automatic analysis of human R-banded metaphases.

A computer system analysing human metaphase images and finding banding patterns of R-banded chromosomes has been set up. This first paper describes the interactive procedure in selection of metaphase images, automatically digitized starting from microphotographic negatives.

Azure Stains↗
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

Trisomy of the distal third of the long arm of chromosome 10. Report of a new case due to a familial translocation t(10;18) (q24;p11).

A new case of trisomy of the distal third of the long arm of chromosome 10 due to familial translocation t(10;18) (q24;p11) is described. The main clinical and radiological signs may be summarized as follows: growth at lower limits of normal; poor facial expression; round, flat face with high, broad forehead, fine, highly arched eyebrows, pseudohyperthelorism, microphthalmia, flat, broad bridged nose, hypoplasia of the bony structures of the central area of the face, "fish mouth", macroglossia, micrognathia; short neck; marked dextroconvex lumbar scoliosis; psychomotor delay of mild degree; selective, more pronounced speech delay. Our observation confirms the suggestion by Yunis and Sanchez that a clinical syndrome corresponds to this chromosomal alteration. However, some interesting differences from the previously reported cases, i.e., the absence of microcephaly and of severe impairment of growth and psychomotor development induce us to establish a more favorable prognosis in our case.

Abnormalities, Multiple↗
PubMed1975

Partial 4q trisomy. Apropos of 3 cases.

Three observations of partial trisomy 4q are reported: the first due to a familial translocation the second to a de nove translocation, the third to a "mirror" duplication. The very characteristic phenotype is compared to that of 4 other patients already reported in the literature. The most evocatory symptoms include: absent or poorly indicated nose bridge; pursed lips; shortness of the philtrum; and constant existence of a fold on the antitragus continuing the anthelix reachinghe insertion of the pinna.

Abnormalities, Multiple↗