ABSTRACT
Retinoblastoma is one of the most frequent ophthalmological tumours in children. It is an embryonic tumour originating in the retina. It is caused by abnormalities in the RB1 gene and deletions in the region 13q14. The authors present a bilateral non-hereditary retinoblastoma in monozygotic twins, associated with deletion in the region 13q14, stigmatization, psychomotor and somatic retardation.
Subject(s)
Diseases in Twins , Retinal Neoplasms/genetics , Retinoblastoma/genetics , Child, Preschool , Female , Humans , Retinal Neoplasms/diagnosis , Twins, MonozygoticABSTRACT
The results from longitudinal follow-up of the incidence of refractive eye errors in a population from rural region have contributed to the characteristics of the regional gene pool. Generation born within 1950-1964 (Generation I.) was compared with that born within 1980-1994 (Generation II.). At the same time, a long-term follow-up has demonstrated changes in the quantity of phenotypes in absolute number (values of morbidity: generation I.--all types of refractive errors: urban population men 104/1000, women 132/1000. Rural population men 119/1000, women 135/1000. Generation II.: urban men 132/1000, women 169/1000, rural men 124/1000, women 136/1000. The difference in morbidity between women and men in the Ist and IInd generations, both urban and rural, has not changed. A more pronounced difference can be seen in urban population, namely at myopia in both generations (myopia urban population: generation I. men 40.8%, women 59.2%, generation II. men 43.9%, women 56.1%, myopia rural population: generation I.: men 44.2%, women 55.8%, generation II.: men 47.2%, women 52.8%. Hyperopia urban population: generation I., men 46.7%, women 53.3%, generation II. men 47.3%, women 52.7%. The incidence of astigmatism has shown constant ratio 1:1 both between men and women, and urban and rural populations. These changes were demonstrated most markedly in urban population, but these deviations are caused by emigration from rural to urban districts, especially from a hinterland. 10% of IInd generation (1980-1994) are relatives of Ist generation (1950-1964) only.
Subject(s)
Refractive Errors/genetics , Adolescent , Adult , Child , Czech Republic/epidemiology , Female , Humans , Incidence , Longitudinal Studies , Male , Middle Aged , Refractive Errors/epidemiology , Rural HealthABSTRACT
A permanent cell line [VUP] derived 31 years ago from human malignant melanoma of the choroid has been characterized by genetically firmly anchored heteronuclearity. The most significant chromosomal changes of this cell line are: high instability of the chromosome No. 13 with the rise of new chromosomes formed by translocations, homologous stability of chromosomes 6, 15, and X. Structural changes were not revealed in chromosomes 15 and 22. The variability of chromosomes was studied both by classical conventional methods as well as with GTG banding and DNA hybridization in situ (FISH). Structural diversity was demonstrated in a number of morphologically congruent chromosomes. For example, X chromosome classified morphologically as chromosome No. 10 was determined by means of FISH technique, as a centric fragment Xq with translocated acentric fragment of other chromosomes. Furthermore, mar-t, previously considered to be q arm of chromosome No. 4, is formed by a centric fragment of chromosome No. 13 and an acentric fragment of chromosome No. 1.
Subject(s)
Chromosome Aberrations , Melanoma/genetics , Uveal Neoplasms/genetics , Humans , In Situ Hybridization, Fluorescence , Time Factors , Tumor Cells, CulturedABSTRACT
The authors describe the case-history of a boy with secondary myelodysplastic syndrome (MDS) which developed into acute leukaemia. The latter was quite resistant to treatment. The disease was preceded by treatment of NH lymphoma with a high grade of malignity by radiotherapy and chemotherapy. The authors give the total doses of all cytostatics which were administered to the patient. One year prior to diagnosis of MDS cytogenetic examination of peripheral blood revealed a highly pathological karyotype, from the numerical and structural aspect. Among others monosomy of chromosome no. 5 was found which is typical for MDS and these changes indicate as a rule a poor prognosis and relatively early transformation to acute leukaemia.
Subject(s)
Anemia, Refractory, with Excess of Blasts/etiology , Lymphoma, Non-Hodgkin/therapy , Anemia, Refractory, with Excess of Blasts/chemically induced , Antineoplastic Agents/adverse effects , Child , Humans , Lymphoma, Non-Hodgkin/drug therapy , Lymphoma, Non-Hodgkin/radiotherapy , Male , Radiotherapy/adverse effectsABSTRACT
The authors present an account on a 12-year-old girl with ectomesodermal dysgenesis of the Rieger type syndrome. The disease was manifested at the age of nine months by transient diffuse corneal opacity, while the intraocular pressure was normal. In addition to typical corneal changes and changes in the angle of the chamber other associated somatic symptoms included megalocornea, high myoptic astigmatism, cleft soft palate, hypoplasia of the upper jaw, partial anodontia, marked thoracic kyphosis, scoliosis, generalized hypermobility and taxicity of the joints and torticollis. Examination revealed an uncommon pathological karyotype 46, XX, t/1,4 (p36, q23). Cytogenetic examination of the parents and siblings of the proband did not disclose any numerical or structural aberrations. The authors reflect on possible causes of the development of the disease and on the differential diagnosis.
