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Herein, we describe a case of an infertile man detected in postnatal diagnosis with FISH characterization and array-CGH used for genome-wide screening which allowed the identification of a complex rearrangement involving sex chromosomes, apparently without severe phenotypic consequences. The deletion detected in our patient has been compared with previously reported cases leading us to propose a hypothetical diagnostic algorithm that would be useful in similar clinical situations, with imperative multi disciplinary approach integrated with genetic counseling. Our patient, uniquely of reproductive age, is one of six reported cases of duplication of Xp22.3 (~ 8.4 Mb) segment and contemporary deletion of Yq (~ 42.9 Mb) with final karyotype as follows:
46,X,der(Y),t(X;Y)(Ypter → Yq11.221::Xp22.33 → Xpter).ish der(Y) (Yptel+,Ycen+,RP11-529I21+,RP11-506M9-Yqtel −,Xptel +). arrXp22.33p22.31(702–8,395,963, 8,408,289x1), Yq11.221q12 (14,569,317x1, 14,587,321–57,440,839x0)  相似文献   
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Reintroduction of capuchin monkeys (Cebus apella) into their social group in captivity can elicit sirena screams and embraces. Captive scream-embrace displays are male biased, and females never perform sirena screams. One hypothesis is that scream-embrace displays serve a tension-reduction or reconciliatory function between males with conflicting interests. Alternatively, these displays may function to maintain strong affiliative bonds between friendly male dyads. Scream and/or embrace displays in wild Brazilian black-horned capuchins were analyzed for social and ecological contexts, behavioral components, and individuals involved. Seventy-two displays were observed during the 199-day study period. Among the 66 displays for which both members could be identified by sex, there were 42 occurrences of male-male dyads, 17 of male-female dyads, and seven of female-female dyads. Scream-embrace dyads were male-male pairs significantly more often than expected from group membership, and the alpha male was the only male to engage in scream-embrace displays with females. Female-female pairs did embrace, but never emitted sirena screams. Displays most commonly occurred in "reunion" contexts, primarily the reuniting of subgroups after hours or days out of contact, but also after intergroup encounters, and across groups in "intergroup" displays. Displays were rare, but socially contagious, and subgroup reunions could elicit multiple displays in rapid succession. Although the occurrence of screams and embraces was positively correlated, both behaviors also occurred independently, and their functions may be different. Male sirena screams may be honest advertisements of united alliances, directed toward a third party, whereas the embrace may be a risky affiliative signal, directed primarily within the dyad.  相似文献   
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South American fur seals breeding in Peru are subjected to levels of maternal aggression, and subsequent pup mortality, that are higher than has been reported for any other otariid species. For mothers and pups to maintain contact with each other, a mutual recognition system should exist to facilitate reunion and avoid misdirection of maternal effort. We recorded vocalizations of mothers and pups at Punta San Juan, Peru, during the 1994 and 1995 breeding seasons. Sixteen acoustic variables were measured from a total of 560 calls from 15 mothers and 13 pups. Multivariate analysis showed that calls were variable in several acoustic dimensions. While calls of both mothers and pups showed low variability within and high variability among individuals, mothers' calls were more individualistic. On average, discriminant-function analysis correctly assigned 60% of pup calls and 70% of mother calls to the individual that produced them. Characteristics of the fundamental frequency were most important for distinguishing among mothers, while pup calls, which typically contained less harmonic structure, could be differentiated by formant-like frequency ranges. Thus, calls of mother and pup South American fur seals appear to exhibit sufficient stereotypy to allow for recognition and discrimination among individuals.  相似文献   
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When males in captive tufted capuchin monkey (Cebus apella) groups separate and come together within their group, they have been observed to embrace and vocalize upon reunion. This display has not been observed in any other age/sex class. To investigate this, we deliberately separated six animals, including the only two adult males, from each of two social groups. We hypothesized that only the adult males would embrace upon reintroduction. When two males were consecutively reintroduced to their group, they typically ran to each other and came together in a frontal embrace, emitting stereotyped vocalizations. No other combination of animals showed this “reunion display.” Though dramatic, this behavior was in no way associated with incidents of aggression. We argue affiliative bonds may exist in these tufted capuchin male dyads. © 1996 Wiley-Liss, Inc.  相似文献   
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