Mario Furbetta

Polymorphism of DNA Sequence in the β-Globin Gene Region

Abstract We used a restriction endonuclease to analyze the β-thalassemia gene in Sardinia. When we digested human DNA with the restriction enzyme Bam HI, the β-globin gene split into a 5′ portion c...

Multiple anomalies associated with an extra small metacentric chromosome: Modified Giemsa stain results

SummaryA female infant aged 10 months with multiple congenital anomalies associated with a small metacentric extra chromosome is reported. The chromosomal studies with a modified Giemsa-stain technique suggests that the extrachromosome is a isochromosome for the short arm of chromosome 18.ZusammenfassungEin weiblicher Säugling im Alter von 10 Monaten mit multiplen angeborenen Mißbildungen zeigte ein kleines metazentrisches Extrachromosom. Die Chromosomenuntersuchung mit einer modifizierten Giemsa-Färbung legt den Gedanken nahe, es könne sich um ein Isochromosom für den kurzen Arm von Chromosom 18 handeln.

Molecular mechanism accounting for milder types of thalassemia major

We carried out alpha-globin gene analysis by restriction endonuclease mapping in 91 Sardinians with homozygous transfusion-dependent beta 0-thalassemia and correlated the clinical findings with the alpha-globin genotype. In patients (n = 6) with deletion of two alpha-globin structural genes, disease onset and transfusion dependence occur later than in those (n = 50) with a full complement of alpha-globin genes. There was no statistically significant difference in the group of patients (n = 35) with deletion of only one alpha-globin gene. Patients with deletion of two alpha-globin genes had significantly higher Hb A2 levels than those with a full complement of alpha-structural genes and those with deletion of a single alpha-globin gene. From this and other studies, it seems that the deletion of two alpha-globin structural genes may convert the common severe clinical picture associated with homozygous beta 0-thalassemia to milder forms, ranging from a later occurring but still transfusion-dependent type to a non-transfusion-dependent form.

A case of trisomy of the short arms of chromosome No. 4 with translocation t(4p 21p; 4q 21q) in the mother

SummaryThe clinical features and cytogenetic Giemsa banding studies of a case of partial trisomy 4p [47,XX,+der(21), der(4), der(21), t(4p 21p;4q 21q) mat] are presented. This aberration resulted from a reciprocal translocation rcq(4p 21p; 4q 21q) found in the mother.

A case of extra small acrocentric bisatellited chromosome in a non mongoloid child

SummaryA mentally retarded child with an extra small bisatellited acrocentric chromosome is described. The patient exhibited rather unspecific clinical signs such as strabismus, marked facial asymmetry, broad and prominent nasal bridge, hypertelorism, Brushfields spots, malformed ears with atresia of the external auditory canal on the right side. Giemsa banding (R and G methods) did not allow a clear cytogenetic identification of the extrachromosome. A tentative interpretation of the cytogenetic aberration as a trisomy of the proximal part of the long arm of chromosome 13 is discussed.