RESUMEN
Munchausen's syndrome is a rare disorder, characterised by a disturbance in the person's character and behaviour, which consists of mental elaboration of somatic symptoms and simulation of illness, where the patient himself produces the symptoms. This case history highlights certain risks when the Munchausen patient comes into contact with the health service.
Asunto(s)
Cuidadores , Síndrome de Munchausen , Adulto , Humanos , Masculino , Síndrome de Munchausen/diagnóstico , Síndrome de Munchausen/psicología , Factores de RiesgoRESUMEN
We describe two female patients mosaic for a cell line with an extra marker X chromosome in addition to a normal 46,XX cell line. To our knowledge, these cases are the first reports of females who had a cell line with a supernumerary marker X chromosome in addition to a normal cell line. They also had strikingly similar manifestations, including small hands and feet, minor facial anomalies, obesity, and mental retardation. The DNA content of the mar(X) chromosomes was investigated by fluorescent in situ hybridization using pericentromeric probes. The XIST gene, which is necessary for initiation of X-inactivation, was deleted from both marker chromosomes, suggesting that these chromosomes were not subject to inactivation. The short arm breakpoints of the mar(X)s were between the DNA markers DXS423E on Xp11.21 and UBE1 on Xp11.23. In Patient 1, mar(X) contained the androgen receptor gene and the DNA marker DXS1, both mapping to Xq11.2, whereas in Patient 2 the chromosome breakpoint was proximal to these markers. We suggest that the similar phenotypes of these patients may be due to the overexpression of genes in the common pericentromeric region of the X chromosome.
Asunto(s)
Anomalías Múltiples/genética , Aberraciones Cromosómicas , Cromosoma X/genética , Adolescente , Adulto , Anomalías Craneofaciales/genética , Compensación de Dosificación (Genética) , Femenino , Deformidades Congénitas del Pie/genética , Marcadores Genéticos , Deformidades Congénitas de la Mano/genética , Humanos , Hibridación Fluorescente in Situ , Discapacidad Intelectual/genética , Mosaicismo , Obesidad/genética , FenotipoRESUMEN
We have used eight PCR-based DNA polymorphisms to determine the parental origin and mechanisms of formation in 9 patients with de novo nonmosaic tetrasomy 18p. The 9 patients, 4 girls and 5 boys, had clinical features characteristic of i(18p) syndrome. The supernumerary marker chromosome was identified by fluorescence in situ hybridization (FISH) analysis using centromeric probes and a flow-sorted 18p-specific library. The isochromosome was of maternal origin in all 9 cases. The formation of tetrasomy 18p cannot be explained by a single model. In 6 cases, meiosis II nondisjunction, followed by subsequent postzygotic misdivsion, and in 1 case postzygotic nondisjunction and postzygotic misdivision were the most likely mechanisms of formation. Alternative mechanisms are suggested in the remaining 2 cases.
Asunto(s)
Aneuploidia , Cromosomas Humanos Par 18 , Adolescente , Adulto , Niño , Preescolar , Mapeo Cromosómico , Femenino , Humanos , Hibridación Fluorescente in Situ , Lactante , MasculinoRESUMEN
Three unrelated institutionalized mentally retarded males with fragile X syndrome presented major depressive disorders. Their depressive moods were long unrecognized because of the difficulties in assessing depressive symptoms in mentally retarded individuals. The genetic implications of establishing the diagnosis of this common heritable X-chromosome abnormality and the therapeutic consequences of detecting the depression are emphasized. Fragile X [fra(X)] may be a genetic predisposition to neuropsychiatric disorders with a variable range of manifestations. The fragile X syndrome may be helpful as a biologic model for studying the relationship between specific genetic factors and biological forms of psychopathology.