RESUMEN
A trisomy 17pter --> p11.2 derived from a supernumerary de novo satellited marker was identified by GTG bands and fluorescent in situ hybridisation (FISH) in amniocytes of a fetus with malformations and intrauterine growth retardation (IUGR). At 39 weeks a male infant with a phenotype similar to other postnatal cases of 'pure' complete trisomy 17p was born. Some additional clinical features, however, make him more severely affected than previous patients.
Asunto(s)
Cromosomas Humanos Par 17 , Enfermedades Fetales/genética , Diagnóstico Prenatal , Trisomía , Anomalías Múltiples/genética , ADN Satélite , Retardo del Crecimiento Fetal/genética , Humanos , MasculinoRESUMEN
We present the clinical, cytogenetic, and molecular studies on a constitutional deletion of 19q ascertained prenatally due to decreased fetal activity and IUGR. Chromosome analysis by GTG banding on amniocytes suggested a del(19)(q13.1q13.3), but the analysis of microsatellites by PCR demonstrated that the deletion involved the distal segment of q12 and the proximal segment of q13.1 (15 cM). The severely affected female infant born at 38 weeks has clinical findings that may be related to haploinsufficiency of specific genes within 19q12.1-->q13.1 that control important processes of normal development and cell function.
Asunto(s)
Anomalías Múltiples/genética , Deleción Cromosómica , Cromosomas Humanos Par 19/genética , Preescolar , Mapeo Cromosómico , Anomalías Craneofaciales/genética , Femenino , Deformidades Congénitas de la Mano/genética , Humanos , Hibridación Fluorescente in Situ , Cariotipificación , Enfermedades Renales Quísticas/congénito , Enfermedades Renales Quísticas/genética , Repeticiones de MicrosatéliteRESUMEN
The site and physiologic mechanism(s) responsible for the generation of odontocete biosonar signals have eluded investigators for decades. To address these issues we subjected postmortem toothed whale heads to interrogation using medical imaging techniques. Most of the 40 specimens (from 19 species) were examined using x-ray computed tomography (CT) and/or magnetic resonance imaging (MR). Interpretation of scan images was aided by subsequent dissection of the specimens or, in one case, by cryosectioning. In all specimens we described a similar tissue complex and identified it as the hypothetical biosonar signal generator. This complex includes a small pair of fatty bursae embedded in a pair of connective tissue lips, a cartilaginous blade, a stout ligament, and an array of soft tissue air sacs. Comparing and contrasting the morphologic patterns of nasal structures across species representing every extant odontocete superfamily reveals probable homologous relationships, which suggests that all toothed whales may be making their biosonar signals by a similar mechanism.
Asunto(s)
Cetáceos/anatomía & histología , Frente/anatomía & histología , Nariz/anatomía & histología , Animales , Bolsa Sinovial/anatomía & histología , Cartílago/anatomía & histología , Tejido Conectivo/anatomía & histología , Delfines/anatomía & histología , Frente/diagnóstico por imagen , Frente/fisiología , Ligamentos/anatomía & histología , Membranas/anatomía & histología , Nariz/diagnóstico por imagen , Nariz/fisiología , Cráneo/anatomía & histología , Sonido , Tomografía Computarizada por Rayos X , Ballenas/anatomía & histologíaAsunto(s)
Delfines/fisiología , Ecolocación , Cabeza , Orientación , Estimulación Acústica , AnimalesRESUMEN
Light transmission through the body wall of living, color-labile desert iguanas (Dipsosaurus dorsalis) was measured by spectrophotometry. In the dark phase, the body wall's absorption of ultraviolet light and visible light was approximately twice that of the body wall in the light phase. The shorter wavelengths of ultraviolet could penetrate the body wall in the light phase but not in the dark phase. The intensity and wavelengths of light which could penetrate the body wall without pigments are potentially mutagenic when judged by bacterial standards.
Asunto(s)
Luz , Lagartos , Rayos Ultravioleta , Animales , Transferencia de Energía , Escherichia coli/efectos de la radiación , Estivación , Lagartos/efectos de la radiación , Mutágenos , Mutación , Peritoneo/efectos de la radiación , Pigmentación , Efectos de la Radiación , EspectrofotometríaAsunto(s)
Agresión , Cetáceos , Comunicación Animal , Animales , Cortejo , Femenino , Humanos , Masculino , Conducta Sexual Animal , Predominio SocialRESUMEN
Operant conditioning techniques were used to establish a discriminative echolocation performance in a porpoise. Pairs of spheres of disparate diameters were presented in an under-water display, and the positions of the spheres were switched according to a scrambled sequence while the blindfolded porpoise responded on a pair of submerged response levers. Responses which identified the momentary state of the display were food-reinforced, while those which did not (errors) produced time out. Errors were then studied in relation to decreased disparity between the spheres. As disparity was decreased, errors which terminated runs of correct responses occurred more frequently and were followed by longer strings of consecutive errors. Increased errors and disruption of a stable pattern of collateral behavior were associated. Since some sources of error other than decreased disparity were present, the porpoise's final performance did not fully reflect the acuity of its echolocation channel.
Asunto(s)
Cetáceos , Condicionamiento Psicológico , Discriminación en Psicología , Audición , Sonido , Animales , Condicionamiento OperanteRESUMEN
Four kinds of speed runs showed a Pacific bottlenose porpoise (Tursiops gilli) to have a top speed of 29.9 kilometers per hour (16.1 knots) for 7.5 seconds and a top speed of 21.9 kilometers per hour (11.8 knots) for 50 seconds. These results compare closely with highest predictions based upon rigid body drag calculations, the same power output per unit body weight as for athletes, and a propulsive efficiency of 85 percent.