Biomedical subjects
Publications and source records attributed to L Zelante.
Several patients with partial 12p duplications are known. An additional patient, who presented with the clinical manifestations of trisomy 12p syndrome, is described. De novo duplication 12p13.1-->pter was diagnosed using subchromosomal painting libraries obtained from somatic cell hybrids.
A newborn infant with the full manifestations of trisomy 9 syndrome is reported. Cytogenetic analysis reveled an homogeneous aneuploidy. Molecular studies using polymorphic microsatellites of chromosome 9 showed that non disjunction occurred at maternal meiosis II.
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The frequency of 62 different CFTR mutations in 225 chromosomes from a CF birth cohort, which includes all the affected subjects born in northeast Italy during a 10-year period of time, was investigated. New mutations were also searched by the analysis of 15 different exons. The total proportion of CF chromosomes with detectable mutations is 73.78%. Therefore although a considerable improvement in CF mutation detection in our population has been achieved, the search for other common and uncommon mutations should be continued. Moreover a carrier screening program should be postponed until reaching a cumulative proportion of known CF alleles of at least 90%. The correlations between the genotypes which have been identified and the main clinical features added some new information to the classification of CF mutations as pancreatically severe or mild ones.
Utilizing Alu-polymerase chain reaction and single-strand conformation polymorphism technologies a new DNA restriction fragment length polymorphism was detected on a cosmid clone located on chromosome 6p21. An accurate analysis of allele frequency was carried out on a large series of unrelated individuals. Furthermore a detailed linkage analysis in several large pedigrees showed this new polymorphism to be tightly linked to the HLA-DQ alpha locus.
The Melkersson-Rosenthal syndrome is a rare disease of unknown pathogenesis. Classical signs include recurrent facial palsy, lingua plicata and orofacial edema. The diagnosis is often difficult when all features are not present at the same time: in the literature complete triads occurred in 25-30% of the patients. We report a case of Melkersson-Rosenthal syndrome with classical triad of signs in a 13 year old boy. The pathology, clinical features and management of this disease are discussed: the possible role of food allergy or additives intolerance is also examined.
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The major manifestations of the Baller-Gerold syndrome (BGS) are craniosynostosis and preaxial limb anomaly involving the radius and/or the thumb. We report on a new patient with coronal and sagittal suture involvement, mild unilateral radial and thumb hypoplasia, imperforate anus, rectovaginal fistula, prenatal onset growth deficiency, and mental retardation. This patient also had some minor oral-facial anomalies, severe nonfamilial myopia, bilateral conductive hearing loss, ureteric reflux, and skeletal anomalies other than those noted in the skull and upper limbs. This patient confirms the clinical variability among the patients and the wide pleiotropic effects of the BGS gene.
A family is reported in which the 'acromegaloid facial appearance' (AFA) phenotype was segregating through two generations. The five affected persons showed a striking resemblance to the patients previously reported, including progressively coarse acromegaloid-like facial appearance, narrow palpebral fissures, bulbous nose, and thickening of the lips and intraoral mucosa, resulting in exaggerated rugae and frenula. These patients also had increased birth weight and dull mentality. It is unclear if the differences between the two families mark distinct syndromes or simply extend the AFA phenotype.
Three unrelated patients with de novo del 11q23-->qter are reported. Clinical features included growth and mental retardation, hypotonia, trigonocephaly, facial dysmorphism with hypertelorism, epicanthal folds, abnormally shaped palpebral fissures, eye globe malformations, depressed nasal bridge, "carp-shaped" mouth, highly arched palate, low set and malformed ears. One patient had congenital heart defect, and reduced platelet count. This syndrome, originally reported by Jacobsen, is now corroborated by more than 35 patients and appears as the most common deletion involving 11q. Since deletion of subband 11q24.1 is critical for full expression of this syndrome, the JBS phenotype could be an example of contiguous gene syndrome.
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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).
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.
We describe three patients, originating from three different Italian localities, affected by the cardio-facio-cutaneous (CFC) syndrome. In addition to a varying degree of mental retardation, these patients present characteristics consisting of a peculiar face with bitemporal frontal constriction and other anomalies involving the eyes, nose, ears, hair, skin, and heart that are consistent with this diagnosis.
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Tetraploidy (4n = 92) without structural chromosome aberrations was found in bone marrow cells of a patient with acute nonlymphocytic leukemia, FAB classification M1, following autologous bone marrow transplantation. This finding, which remained undetected during the remission phases and appeared at relapses, progressed to a hypotetraploid modal number (74 chromosomes) at the terminal phase of the disease. Together with two previous observations in patients with acute lymphoblastic leukemia with L2 morphology and a null cell immunotype, this observation supports the hypothesis that tetraploid karyotypes may represent unusual and aspecific patterns of clonal evolution.
Two siblings whose clinical and pathologic features were consistent with the "Syndrome of camptodactyly, multiple ankyloses and pulmonary hypoplasia" originally described by Pena and Shokeir were examined at autopsy. Additional features were intrauterine growth retardation, immaturity of the central nervous system (CNS) and atrophy of skeletal muscles. Our data suggest that CNS damage may cause the complicated phenotypic abnormalities of the syndrome.
A stable ring chromosome 21 was found in an azoospermic man with an otherwise normal phenotype. Meiotic studies in another known azoospermic male with r(21) had indicated that breakdown of spermatogenesis resulted from pairing failure of chromosome 21, followed by degenerative changes in the chromosomes, before the cells had completed the first meiotic division. While primary sterility was a constant feature in the three adult males, eight healthy females with r(21) were fertile. However, they were at risk for Down syndrome and spontaneous abortions.