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Biomedical subjects

B Dallapiccola

Publications and source records attributed to B Dallapiccola.

At least 379 records · Page 21Linked to original sources
PubMed1979

Inactive normal X in a female leukaemic patient with an acquired X/autosome translocation.

An X;9;22 translocation was detected in bone marrow cells of a female patient with blastic crisis of CML. A dynamic study following 5-BrdU treatment showed that the inactive late-replicating X chromosome was the normal one. This pattern of X-chromosome replication appears to be superimposable on the most usual model found in congenital X/autosome translocations. It is suggested that preferential autosome translocation onto the active X chromosome could be the general rule in acquired X/autosome translocations associated with long survival.

Adult↗
PubMed1979

Interstitial deletion 13q syndromes: a report on two unrelated patients.

A partial monosomy 13 by interstitial deletion was found in the complement of two patients with mental retardation and mild dysmorphic features. Neither of the patients had a retinoblastoma, even though the second patient had a 13q14 deletion. The karyotype-phenotype correlation in the two patients suggests the need to reconsider the clinical profile of these rare chromosomal syndromes in a large series of subjects.

Adolescent↗
PubMed1979

Increased HK1 activity levels in the red cells of a patient with a de novo trisomy 10p: t(Y;10)(p11;p12).

A male patient with mental retardation and typical clinical features of 10p trisomy syndrome was found to have a duplication of the short arm of chromosome 10 attached to the short arm of the Y chromosome. Quantitative evaluation of nine red cell enzymes showed significantly increased activity levels of HK1 and, to a lesser extent, of PK, PGI, 6PGD, and G6PD. It is suggested that the HK1 locus may be in the 10pter leads to p12 region. The increased levels of HK1 could affect other erythrocyte metabolic pathways slowing down the physiological rate of cellular senescence and result in increased activity levels of other cell-age-dependent enzymes.

Cell Survival↗
PubMed1979

Y chromosome duplication: a minor route evolutive pattern in CML.

2 patients have been investigated, in which Y chromosome duplication occurred during blastic transformation of chronic myelocytic leukaemia. Comparison of cytogenetic findings and survival data in our cases and in previously reported individuals, suggests preliminary conclusions about the prognostic significance of this aneuploidy. Y chromosome gain does not seem to represent per se an unfavourable event, unless it is associated with additional chromosome change.

Aneuploidy↗
PubMed1978

Delineation of syndromes due to partial 6q imbalances. Trisomy 6q21 leads to qter and monosomy 6q221 leads to qter in two unrelated patients.

Two unrelated patients carrying imbalances involving the long arm of chromosome 6 are described. In the first trisomy 6q21 leads to qter had segregated from a maternal translocation t(6;16)(q15;q24). The clinical data of the proposita are compared with those of three other published cases. A partial 6q trisomy syndrome is postulated characterized by: growth deficiency of prenatal onset, psychomotor retardation, craniofacial abnormalities (microcephalia, hypertelorism, downward slanting palpebral fissures, flattened nasal bridge, long philtrum, hypoplastic perioral features, large jaw resulting in a round appearance of the face, receding chin, malformed ears) and dysmorphic extremities (contractures of limbs due to short flexor tendons, hypoplastic fingers, toes and nails). In the second case, monosomy 6q221 leads to qter resulted from a de novo rearrangement and was responsible for mental retardation and facial dysmorphism (reduced biparietal diameter, hypotelorism, absent eyebrows, prominent nose, ptosis, receding chin, dysmorphic ears). Studies of HLA and PGM3 segregation showed normal inheritance patterns and ruled out the location of these genes in bands 6q221 leads to qter.

Abnormalities, Multiple↗
PubMed1977

Translocation Y/5 resulting in Cri du Chat syndrome.

A case of 45,X,del(5)(p14/45,X,t(Y;5)(q11;p14) mosaicism is described. The patient displays the clinical features of the Cri du Chat syndrome, together with gross malformation of the distal left arm. The presence of male sex development is consistent with the location of factor(s) controlling the male sex determination in the paracentromeric area of the Y chromosome.

Arm↗
PubMed1977

Trisomy 4p: five new observations and overview.

Five new cases of trisomy of the short arm of chromosome No. 4 are presented. In two brothers the abnormality arose from segregation of the 4p chromosome present in the mother who is a carrier of a centric fission of one No. 4 chromosome. In the other three patients, the chromosome imbalance originated from segregation of a balanced maternal 3p/4q or 4/22 translocation. The available data, derived from the 4p trisomics reported so far, are adequate to establish trisomy of the short arm of chromosome No. 4 as a definite clinical entity. The most outstanding findings include growth retardation of prenatal onset, severe mental deficiency, microcephaly and a peculiar constellation of facial dysmorphisms. The dermatoglyphic patterns and the radiological findings may help towards a correct interpretation of the syndrome.

Abnormalities, Multiple↗
PubMed1977

Cytogenetic studies in acute leukaemias. Prognostic implications of chromosome imbalances.

Consistent cytogenetic abnormalities have been detected in the bone marrow cells of 19 out of 33 patients (57.57%) with a recent diagnosis of acute leukaemia. Chromosome imbalances were apparently non-random, chromosomes 8, 17, 20 and 21 being more frequently involved. The median survival in the patients' group with abnormal metaphases was 55 vs. 210 days in patients with only normal metaphases. In the former group complete remission was obtained in 2 of 3 ALL patients and in 4 of 16 ANLL patients. Major karytypic abnormalities were consistently found in 5 subjects with EL. Peripheral blood culture lymphocytes showed a 9qh polymorphism in 2 of 35 patients and sporadic or consistent chromosome abnormalities in 6.

Chromosome Aberrations↗
PubMed1976

Hand dermatoglyphics in trisomy 4p.

A dermatoglyphic analysis of the hands of 16 patients with trisomy for the short arm of chromosome 4 has revealed an increased frequency of whorl patterns on fingertips, presence of axial triradii in position t' on palms and an increase of the main line index. Although of little diagnostic value these changes must be included in the constellation of major signs which characterize the 4p trisomy syndrome.

Chromosomes, Human, 4-5↗