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Biomedical subjects

B Dallapiccola

Publications and source records attributed to B Dallapiccola.

At least 271 records · Page 15Linked to original sources
PubMed1991

3' creatine kinase (M-type) polymorphisms linked to myotonic dystrophy in Italian and Spanish populations.

Linkage analysis and haplotype characterization for the allelic system detected at the 3' creatine kinase muscle type (CKMM) locus were carried out in 59 myotonic dystrophy (DM) families from Italy and Spain. A maximum lod score (zmax) of 21.26 at a recombination frequency (theta) of 0.00 was found. No statistically significant linkage disequilibrium was observed between DM and the RFLPs examined. However, a substantial linkage disequilibrium was found between CKMM-TaqI and CKMM-NcoI sites in these two populations.

Alleles↗
PubMed1991

Fragile sites and chromosome instability: the distribution of breaks induced by cis-diamine-dichloro-platinum (II) in Fanconi anemia lymphocyte cultures.

The distribution of chromosome breaks induced by the antitumor drug cis-diamine-dichloroplatinum (II) in lymphocyte cultures from Fanconi anemia patients was analyzed. Breakpoints occurred nonrandomly over an arbitrarily defined human karyotype of 319 bands. These bands were classified according to either their banding pattern or their fragile site status (whether or not a fragile site of a given type is located at a chromosomal band). A significant involvement of G-light and fragile site bands was detected. The preferential occurrence of breaks at fragile site bands was limited to common fragile site bands (essentially of the aphidicolin-type).

Cells, Cultured↗
PubMed1991

Recurrent nonsense mutations in the growth hormone receptor from patients with Laron dwarfism.

In addition to its classical effects on growth, growth hormone (GH) has been shown to have a number of other actions, all of which are initiated by an interaction with specific high affinity receptors present in a variety of tissues. Purification of a rabbit liver protein via its ability to bind GH has allowed the isolation of a cDNA encoding a putative human growth hormone receptor that belongs to a new class of transmembrane receptors. We have previously shown that this putative growth hormone receptor gene is genetically linked to Laron dwarfism, a rare autosomal recessive syndrome caused by target resistance to GH. Nevertheless, the inability to express the corresponding full-length coding sequence and the lack of a test for growth-promoting function have hampered a direct confirmation of its role in growth. We have now identified three nonsense mutations within this growth hormone receptor gene, lying at positions corresponding to the amino terminal extremity and causing a truncation of the molecule, thereby deleting a large portion of both the GH binding domain and the full transmembrane and intracellular domains. Three independent patients with Laron dwarfism born of consanguineous parents were homozygous for these defects. Two defects were identical and consisted of a CG to TG transition. Not only do these results confirm the growth-promoting activity of this receptor but they also suggest that CpG doublets may represent hot spots for mutations in the growth hormone receptor gene that are responsible for hereditary dwarfism.

Dwarfism↗
PubMed1991

Di George anomaly with atrioventricular canal.

We report the first case of Di George anomaly associated with atrioventricular canal. This combination of anomalies may represent a chance occurrence of two situations happening in the same patient or, alternatively, the result of a single unknown embriogenetic mechanism.

DiGeorge Syndrome↗
PubMed1991

Ring chromosome 8 associated with microcephaly.

A two-year-old mental defective girl with microcephaly and minor dysmorphic features had a 46,XX,r(8) karyotype. Low birth weight, short stature, and mental retardation were common features in the four known patients with r(8).

Chromosomes, Human, Pair 8↗
PubMed1991

Ring chromosome 14 syndrome. Report of two cases, including extended evaluation of a previously reported patient and review.

A case of r(14) chromosome is described and new information is added to a previously reported patient. The r(14) syndrome is reviewed on the basis of 37 known patients. The major features include prenatal and postnatal growth retardation, mental retardation, seizures, microcephaly, and distinct facial dysmorphism, including elongated face, narrow palpebral fissures, epicanthus, and broad nasal bridge. Other characteristic anomalies found only in some patients are retinal anomalies, lymphoedema of hands and feet, and prones to pulmonary infections.

Chromosomes, Human, Pair 14↗
PubMed1991

[Trisomy 18 associated with atrioventricular canal].

We describe the clinical and necropsy findings of a newborn with trisomy 18 and atrioventricular canal. The patient also showed an aortic coarctation, a dysplasia of the common atrioventricular valve and multiple extracardiac anomalies. The atrioventricular canal, so frequent in patients with trisomy 21, is unusual in trisomy 18. The present case is the 6th of the medical literature.

Chromosomes, Human, Pair 18↗
PubMed1990

Autosomal dominant polycystic kidney disease: a linkage evaluation of heterogeneity in Italy. Italian Collaborative Group on Polycystic Kidney Disease.

A survey of 29 families with Adult Polycystic Kidney Disease (ADPKD) was performed to evaluate the genetic heterogeneity of the disease in Italy. The approach was through the linkage between the disease and 2 polymorphic DNA fragments as detected by the probes 3'HVR and 24.1. Linkage between the polymorphic markers and the disease was confirmed, with the following lod scores: between 3'HVR and ADPKD1 = 12.974 at theta = 0.02; between 24.1 and ADPKD = 1.716 at theta = 0.07; between 3'HVR and 24.1 = 2.738 at theta = 0.09. No evidence of significant genetic heterogeneity in the examined Italian regions was detected.

Genes, Dominant↗
PubMed1990

Jeune syndrome associated with cystinuria: report of two sisters.

Jeune syndrome is generally lethal in the first months of life. Surviving patients develop progressive renal failure and hepatic fibrosis. We describe 2 sisters, aged 7 and 2 years, respectively, who had Jeune syndrome associated with cystinuria. To our knowledge, this is the first reported association of these 2 autosomal recessive disorders.

Asphyxia Neonatorum↗
PubMed1990

Genetic differences in cystic fibrosis patients with and without pancreatic insufficiency. An Italian collaborative study.

To determine the number and frequency of mutations that occur at the cystic fibrosis locus (CF), we have examined the allele and haplotype frequencies of eight polymorphic DNA markers linked to CF in 163 Italian patients who were sub-divided according to their clinical presentations. The distribution of haplotypes for the tightly linked polymorphisms KM.19 and XV-2c differ significantly between patients with and those without pancreatic insufficiency. The haplotype found most commonly in CF chromosomes occurs much more frequently in pancreatic insufficient than in pancreatic sufficient patients. Among the 19 pancreatic sufficient patients, 6 (31.6%) show at least one copy of the rare KM.19 = 1, XV-2c = 2 haplotype, as against 16 of 138 patients (11.6%) with pancreatic insufficiency. In addition, only 5 pancreatic sufficient patients (26.3%) are homozygous for the common 2.1 haplotype, as compared with 88 patients (63.8%) with pancreatic insufficiency. These findings support the hypothesis of allelic heterogeneity at a single locus in CF and suggest that different mutations underlie the presence or absence of pancreatic insufficiency in this disorders.

Alleles↗
PubMed1990

A 45,X male with molecular evidence of a translocation of Y euchromatin onto chromosome 1.

A 45,X complement was found in lymphocyte and fibroblast cultures of a male infant with severe growth and mental retardation and mild dysmorphism. Lymphocyte DNA from this patient was found to contain Yp chromosome sequences. In situ hybridization (ISH) with the 50f2 probe led to a clear assignment of euchromatic material on the short arm of chromosome 1. This observation and others from the literature argue in favour of the conclusion that all 45,X males are probably either the result of undetected mosaicism or are carriers of Y translocated material.

Child, Preschool↗