Asunto(s)
Anomalías Múltiples/genética , Aneuploidia , Cromosomas Humanos Par 21/genética , Discapacidad Intelectual/genética , Anomalías Múltiples/patología , Anomalías Múltiples/fisiopatología , Adulto , Preescolar , Bandeo Cromosómico , Rotura Cromosómica/genética , Síndrome de Down/genética , Femenino , Humanos , Hibridación Fluorescente in Situ , Lactante , Recién Nacido , Discapacidad Intelectual/fisiopatología , Masculino , Persona de Mediana Edad , Hibridación de Ácido Nucleico , Fenotipo , Mapeo Físico de Cromosoma , Embarazo , SíndromeAsunto(s)
Cromosomas Humanos Par 16/genética , Cromosomas Humanos Par 6/genética , Telómero/genética , Translocación Genética , Adulto , Bandeo Cromosómico , Rotura Cromosómica/genética , Salud de la Familia , Resultado Fatal , Femenino , Humanos , Hibridación Fluorescente in Situ , Lactante , Cariotipificación , Masculino , LinajeRESUMEN
We present a new strategy for the detection of subtelomeric rearrangements. This approach is based on two hybridizations with different probe sets. The first set consists of microdissected subtelomeric probes (each 5-10 megabases in size) labeled combinatorially employing 7 different fluorochromes. With this set, subtelomeric interchromosomal exchanges can be detected in a 24-color experiment. The second set comprises a second generation of subtelomeric PAC-, P1- and BAC-clones. Probes for p- and q-arms are labeled with two different colors. This second set detects small deletions; in addition it provides regional information, so that translocated material identified by the first probe set can be assigned to the p- or q-arm of a chromosome. The test has been evaluated in a blind study on a series of subtle translocations and deletions.
Asunto(s)
Cromosomas Humanos/genética , Telómero/genética , Translocación Genética , Pintura Cromosómica , Humanos , Metafase , Eliminación de SecuenciaRESUMEN
In the search for genetic causes of mental retardation, we have studied a five-generation family that includes 10 individuals in generations IV and V who are affected with mild-to-moderate mental retardation and mild, nonspecific dysmorphic features. The disease is inherited in a seemingly autosomal dominant fashion with reduced penetrance. The pedigree is unusual because of (1) its size and (2) the fact that individuals with the disease appear only in the last two generations, which is suggestive of anticipation. Standard clinical and laboratory screening protocols and extended cytogenetic analysis, including the use of high-resolution karyotyping and multiplex FISH (M-FISH), could not reveal the cause of the mental retardation. Therefore, a whole-genome scan was performed, by linkage analysis, with microsatellite markers. The phenotype was linked to chromosome 16p13.3, and, unexpectedly, a deletion of a part of 16pter was demonstrated in patients, similar to the deletion observed in patients with ATR-16 syndrome. Subsequent FISH analysis demonstrated that patients inherited a duplication of terminal 3q in addition to the deletion of 16p. FISH analysis of obligate carriers revealed that a balanced translocation between the terminal parts of 16p and 3q segregated in this family. This case reinforces the role of cryptic (cytogenetically invisible) subtelomeric translocations in mental retardation, which is estimated by others to be implicated in 5%-10% of cases.
Asunto(s)
Anomalías Múltiples/genética , Deleción Cromosómica , Discapacidad Intelectual/genética , Translocación Genética/genética , Adolescente , Adulto , Niño , Cromosomas Humanos Par 16/genética , Cromosomas Humanos Par 3/genética , Femenino , Humanos , Hibridación Fluorescente in Situ , Cariotipificación , Escala de Lod , Masculino , Persona de Mediana Edad , Linaje , Síndrome , TelómeroRESUMEN
Two genes responsible for a nonspecific form of X-linked mental retardation (MRX28 and MRX33) were localized by linkage analysis with 40 highly polymorphic DNA markers situated along the entire the X chromosome. In family 1, the gene could be mapped within a 14-cM interval at Xq28, distal to the recombining marker DXS1113 (MRX28). The maximum LOD score was 2.75, with DXS52 at phi = .0. In family 2, the gene was localized within a 30-cM interval at Xp11.4-22.12 between the recombining markers DXS365 and MAOB, including the DMD gene (MRX33). Maximum LOD scores of 2.82 were obtained with markers DMD-STR49, DMD-DysII, CYBB, and DXS1068.
Asunto(s)
Mapeo Cromosómico , Ligamiento Genético , Discapacidad Intelectual/genética , Cromosoma X , Preescolar , ADN , Femenino , Tamización de Portadores Genéticos , Humanos , Lactante , Escala de Lod , Masculino , LinajeAsunto(s)
Embarazo en Diabéticas/terapia , Glucemia/metabolismo , Terapia Combinada , Diabetes Mellitus Tipo 1/terapia , Dieta para Diabéticos , Femenino , Humanos , Recién Nacido , Insulina/sangre , Insulina/uso terapéutico , Sistemas de Infusión de Insulina , Intercambio Materno-Fetal/efectos de los fármacos , Embarazo , RiesgoRESUMEN
Spectral analysis provides a description of the moments of random signals and enables the characterization of the behaviour of systems in terms of input-output relations. The merits of such an approach in the study of signal transmission in skeletal muscle are described in this paper. The representation of neural spike trains as impulse sequences and the subsequent treatment appropriate for this kind of analysis are discussed together with some practical problems. Spectral analysis of muscle afferent signals is applied to data obtained from cat experiments, and the use of the related frequency-domain techniques is demonstrated on a subsystem of the stretch reflex.
Asunto(s)
Músculos/inervación , Neuronas Aferentes/fisiología , Neurofisiología/métodos , Potenciales de Acción , Animales , Gatos , MatemáticaRESUMEN
Perinatal mortality in diabetic pregnancy has decreased markedly over the past 25 years; this reduction in fetal loss can be attributed to a variety of advances. These include technologic advances in obstetrics and pediatrics, as well as greater understanding of the metabolic aberrations occurring in pregnancy complicated by diabetes. Basically it seems convenient to consider the various disorders in cases of diabetes in pregnancy from several points of view: 1. the effect of pregnancy on the maternal diabetes and 2. the effect of maternal diabetes on the pregnancy and especially on the fetus, and from the above results we can consider 3. an actual procedure in the care of diabetic pregnancy. Regarding the necessary criteria in the care of pregnant diabetics neither pregnancy nor delivery will cause any serious problems.
