Prenatal diagnosis services in Greece

The report presents the available prenatal diagnosis (PND) services in Greece. PND for chromosomal anomalies after amniocentesis was initiated in 1976 and became gradually widely accepted. Chorionic villus sampling was introduced in 1983. Approximately 6,500 women undergo PND for chromosomal anomalies annually, most of them for advanced maternal age. 700 cases are also tested prenatally each year for haemoglobinopathies. The study describes the PND services available in the country, the procedures currently used, the impact of prenatal testing on the prevention of genetic diseases and the legal issues concerning PND in Greece

AUTOSOMAL FOLATE SENSITIVE FRAGILE SITES IN NORMAL AND MENTALLY-RETARDED INDIVIDUALS IN GREECE

The frequencies of autosomal folate sensitive fragile sites were compared in populations of mentally retarded fra(X) negative (N = 220) and normal children (N = 76) in Greece. In addition, the frequency of autosomal fragile sites was studied in 20 known fra(X) children in order to test if the fra(X) syndrome is associated with general chromosome instability. The frequencies of both common and rare autosomal fragile sites did not differ significantly between the mentally retarded and the normal children, although the rate of expression was considerably higher in the retarded group. Autosomal fragile sites were not increased in the fra(X) patients. Fra(3)(p14) was by far the most frequent one in all groups. The frequency of fra(6)(q26) was found to be considerably higher among the mentally retarded children, this difference being almost statistically significant. Further cytogenetic studies of normal and retarded individuals are required in order to elucidate this point further

Awareness and use of prenatal diagnosis among Greek women: A national survey

The prevention of genetic diseases through prenatal diagnosis depends to a large extent on the awareness and acceptance of available methods by the public. A national survey was conducted among Greek women in order to explore their attitudes towards and their use of prenatal diagnosis in relation to their lifestyle. The survey was originally addressed to 3000 Greek women 18-65 years of age. Using as a criterion having a child 5 years old or younger, 350 women were eligible for the study. It was noted that 52 per cent of the respondents were adequately informed; while 48 per cent had either superficial knowledge of the subject or no knowledge at all. Amniocentesis was the method that most women were familiar with. The majority said that they were informed by their doctors and the media, and 13 per cent of the participants had prenatal diagnosis during a previous pregnancy. Twenty-two per cent of those who were not tested were over 35 years of age at the time of pregnancy. There was a significant positive correlation between awareness and acceptance of prenatal diagnosis, on the one hand, and the social, educational and financial profile of the women, on the other. Women aware of prenatal diagnosis adhered more closely to a healthy lifestyle and lived a family-centred life. (C) 1998 John Wiley & Sons, Ltd

De novo inv(2)(p12q34) associated with Klippel-Feil anomaly and hypodontia

The present case report describes a patient with Klippel-Feil anomaly (KFA) and oligodontia, carrying a de novo pericentric inversion of chromosome 2 (p12q34). KFA is characterised by congenital vertebral fusion of the cervical spine and a wide spectrum of associated anomalies. It therefore constitutes a heterogenous group of clinical conditions and has been classified morphologically, although its aetiology remains unclear. We present an 18-year-old female with KFA, associated with congenital impairment of hearing, psychomotor retardation, speech limitation, short stature, spinal scoliosis, facial asymmetry and latent hypothyroidism. No renal anomaly or heart disease was present. In addition, she exhibited oligodontia of both the deciduous and permanent dentition, a unique characteristic that has not yet been reported in any non-cleft palate KFA case. Conclusion: The current report of a patient with oligodontia and an inversion on chromosome 2 may aid in the identification of novel genes for oligodontia

Skin hypersensitivity and in vitro lymphocytic reactivity to tuberculin in childhood

The mitogenic effect of old tuberculin was studied in cultures of peripheral lymphocytes from 113 children with a negative delayed dermal hypersensitivity reaction to tuberculin and from 30 children with a positive dermal reaction. A significant number of cells in mitosis was seen in (a) 23 of 100 randomly chosen children and 11 of 13 BCG vaccinated children in the absence of delayed dermal hypersensitivity to tuberculin, (b) 18 of 20 children with a positive dermal reaction but no history of active tuberculosis, of healing tuberculosis, or of a history BCG vaccination, and (c) 4 of 10 children with active tuberculosis. It is suggested that the in vitro lymphocytic response to tuberculin may be useful in detecting sensitization not expressed by delayed skin hypersensitivity. © 1968 The C. V. Mosby Company

Identification of three polymorphisms in the dystrophin gene

Three polymorphisms were identified in the dystrophin gene using the polymerase chain reaction (PCR) and single strand conformation analysis (SSCA). Two of them tin intron 3) were reported for the first time while the third (in intron 43) is of interest as it is found mostly in patients with a recombination event in the same region. (C) 1999 Academic Press

Cohen syndrome: two new cases in siblings

Cohen syndrome is a rare genetic disorder consisting of truncal obesity, hypotonia, mental retardation, characteristic facial appearance and ocular anomalies. Other diagnostic clinical features include narrow hands and feel, low growth parameters, neutropenia and chorioretinal dystrophy. We describe the similarities in the clinical and developmental profile of two siblings with Cohen syndrome, providing evidence for autosomal recessive inheritance in this condition. Conclusion The diagnosis of Cohen syndrome should be suspected in mentally retarded children with the above characteristics. Neutropenia and ocular anomalies with high-grade myopia and chorioretinal dystrophy are also considered important findings and can aid in the clinical diagnosis especially at an early age