Biomedical subjects
Publications and source records attributed to G Sorge.
A 10-year-old girl with cytological and immunological characteristics of B-cell acute lymphoblastic leukemia is reported. Chromosomal analysis revealed the presence of t(8;14) and i(7q).
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Explore the source record for details and available documents.
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A malformed male infant with pure partial trisomy 12q (q24.1 leads to qter), resulting from an unbalanced segregation of a paternal balanced translocation t(2;12)(q37;q24.1), is described. The cytogenetic and clinical abnormalities of the proband are compared with those of four previously reported cases of partial trisomy 12q, two of which also appear to have pure trisomy of segment 12q24.1 leads to 12 qter.
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Postaxial polydactyly type A was present in several members of a Sicilian family. The anomaly was probably transmitted as an autosomal recessive character. Two polydactylous subjects were also beta-thalassaemia carriers, but a linkage between the two mutant genes could be excluded. Two patients with hexadactyly had a fifth digital triradius.
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A child with many symptoms of trisomy 22 syndrome is described. The child showed a 46,XY/47,XY,+22 chromosome constitution. This is the first reported case of a trisome 22 phenotype with such a mosaic karyotype.
The Authors report on the clinical and instrumental findings of a 11 years old patient affected with Peutz-Jeghers syndrome, several component of her family were also affected. The Authors confirm clinical heterogeneity of the disease and the importance of a early diagnosis.
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Stickler syndrome is a hereditary connective tissue disease transmitted by AD pattern. It is characterized by peculiar facies with bone and ocular anomalies. Heart anomalies (except mitral valve prolapse) are an uncommon features that may be associated. The authors report on a 4 months patient affected by this syndrome who had hypertrophic cardiomyopathy. Pathogenetic mechanism of this anomaly is discussed.
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Melnick-Needles osteodisplasty is a X-linked dominant syndrome characterized by generalized bone dysplasia and abnormal facies. The Authors report on a 13 year old girl affected by severe valgus. At clinical examination the patient showed exophthalmos, full cheeks and micrognathia. Radiological examination revealed sclerosis of the skull base and mastoids, bowed radius and ulna (S-shaped), coxa valga and abnormal vertebral.