Turner syndrome and female sex chromosome aberrations: deduction of the principal factors involved in the development of clinical features

Although clinical features in Turner syndrome have been well defined, underlying genetic factors have not been clarified. To deduce the factors leading to the development of clinical features, we took the following four steps: (1) assessment of clinical features in classic 45,X Turner syndrome; (2) review of clinical features in various female sex chromosome aberrations (karyotype-phenotype correlations); (3) assessment of factors that could lead to Turner features; and (4) correlation of the clinical features with the effects of specific factors. The results indicate that the clinical features in 45,X and in other female sex chromosome aberrations may primarily be determined by: (1) degree of global non-specific developmental defects caused by quantitative alteration of a euchromatic or noninactivated region; (2) dosage effect of a pseudoautosomal growth gene(s), a Y-specific growth gene(s), and an Xp-Yp homologous lymphogenic gene(s); and (3) degree of chromosome pairing failure in meiocytes that are destined to develop as oocytes in the absence of SRY.     

The Maleny ‘Fire Event’: Rehearsals Toward Neo-liminality

Although the anthropological literature on ritual is extensive, little theoretical attention has been paid to recent attempts to (re)create rituals among mainstream groups in post-industrial, secularised societies. The authors address this issue by examiuning the annual Fire Event, which is constructed as a ritual climax to the Maleny Folk Festival in southern Queensland, Australia. Using the work of Victor Turner and John MacAloon as a point of departure, we argue that at best such celebrations constitute a neo-liminal framework within which participants can achieve a consensus of belief and action. By showing that some Fire Events have been more successful ‘rituals’ than others, we also highlight the factors which tend to impede participation and ‘con-subjectivity’ in such settings. In the process we identify some of the cultural divisions at Maleny, such as those between artists and ‘folk’, feral hippies and ‘hoons’, Aboriginals and Anglos, and begin to reflect on how these may relate to more general patterns of interaction in Australian society at large.     

Negotiating the Ritual and Social Order through Spectacle: The (Re)Production of Macassan/Yol▒u Histories1

Broadly framed in terms of performance theories by Turner and Beeman, this paper weaves together the historical, mythical, ritual and performative aspects of a 1997 encounter in Sulawesi between Yol?u (an Aboriginal people of northern Australia) and Macassans (people from southern Sulawesi, Indonesia). The focus of the paper is an indigenous opera called Trepang, which is based on the centuries‐long history of trading relations and family connections between the two groups, and the way its performance was used by the Yol?u and Macassan cast members to renegotiate their often turbulent shared history, along with the contemporary social and ritual order. In this light, Trepang can be understood as a restorative social process, a means of pursuing a common path and a way of ameliorating the discrepancies of the past—bringing the parties finally together as one. Analysing the social context in which the performance of historical ‘truths’ was negotiated, I unpack key events in the staging of this ‘play within a play’ and demonstrate the need to transgress the dualism of ritual and spectacle.     

Words of power: Personal empowerment and healing

This paper examines instances of ritual use of words in a diverse selection of alternative healing groups in a modern society. These words are distinguished by their users' belief that they are endowed with a power, an effectiveness, separate from and in addition to their literal meaning. Three specific features of ritual language contribute to its effectiveness: (1) its function as an objectification of power, (2) its transformative functions — especially its metaphoric and metonymic usages, and (3) its performative aspects. This paper argues that one of the key factors in healing illness is mobilizing resources of power, especially enhancing the ill person's sense of personal empowerment. Ritual language use in alternative healing is one of the foremost elements in this empowerment, because it both represents and objectifies power. Within a belief system in which they are significant, words of power indeed have the power to effect healing.     

The limits of cultural hybridity: on ritual monsters, poetic licence and contested postcolonial purifications

There are many parallels between hybridity theory, especially as it has been developed in the work of Bhabha, and theories of liminality in anthropology, particularly in the work of Turner and Douglas. These share a stress on sited performance and the specific positioning of actors. However, the stress in hybridity theory on the colonial encounter as the source of reflexivity and double consciousness does not engage, I argue, with the fact that cultures produce their own indigenous forms of transgression and hence also of critical reflexivity and satire: ritual clowns, carnivals, poetry, and the like. Moreover, while transgression is a potential tool of resistance which upturns taken-for-granted hierarchies, it plays dangerously on the boundary and, taken out of context, can become a source of offence, especially for postcolonial diasporas struggling for recognition. This raises the question: what are the creative limits of cultural hybridity?.     

Webs of Legitimacy and Discredit: Narrative Capital and Politics of Ritual in a Timor-Leste Community

This article explores the interconnections among origin narratives, migration patterns and ritual authority in a Timor-Leste community. By recognising the dimension of rituals as sources of power, we analyse the different ways social actors negotiate their position in social space by either supporting or contesting the legitimacy of the ritual leaders. We suggest how, in a context with historical levels of high migration and immersed in rapid social change, precedence is not only challenged by modern ideals around individual rights and choices, but by the re-interpretation of mythical narratives and the access to ritual performance. The paper provides a discussion of the notion of narrative capital and shows how subordinated classes resulting from development policies from past state regimes articulate new forms of social mobility in the contemporary context of rural Timor-Leste.     

Evidence for a Turner syndrome locus or loci at Xp11.2-p22.1.

Turner syndrome is the complex human phenotype associated with complete or partial monosomy X. Principle features of Turner syndrome include short stature, ovarian failure, and a variety of other anatomic and physiological abnormalities, such as webbed neck, lymphedema, cardiovascular and renal anomalies, hypertension, and autoimmune thyroid disease. We studied 28 apparently nonmosaic subjects with partial deletions of Xp, in order to map loci responsible for various components of the Turner syndrome phenotype. Subjects were carefully evaluated for the presence or absence of Turner syndrome features, and their deletions were mapped by FISH with a panel of Xp markers. Using a statistical method to examine genotype/phenotype correlations, we mapped one or more Turner syndrome traits to a critical region in Xp11.2-p22.1. These traits included short stature, ovarian failure, high-arched palate, and autoimmune thyroid disease. The results are useful for genetic counseling of individuals with partial monosomy X. Study of additional subjects should refine the localization of Turner syndrome loci and provide a rational basis for exploration of candidate genes.     

A ring-X-chromosome in part of the somatic cells of a patient with some characteristics of the Turner syndrome

A patient is described with some features of the Turner syndrome (dwarfism, pterygium colli, hypoplasia mandibulae and syndactylism) but with normal genital development.^* In the skin 9.6% of the nuclei were Barr-positive. Skin and blood-cultures revealed that she was a mosaic with an XO and an X-ring cell-line. The ring-chromosome is assumed to be derived from an X-chromosome.A possible explanation for the existence of patients with some features of the Turner syndrome and normal genital development is discussed.     

Turner syndrome morphology and morphometrics: Cardiac hypoplasia as a cause of midgestation death

BACKGROUND: A female fetus with massive truncal-limb hydrops and large, loculated, nuchal hygromas in midgestation is highly likely to have Turner syndrome. This phenotype is recognized to be usually lethal, with only more mildly affected fetuses surviving to term birth. METHODS: The morphology and morphometrics of 117 midgestation fetuses with phenotypic Turner syndrome were analyzed. RESULTS: More than 90% of fetuses with phenotypic Turner syndrome were found to have heart weights below the 2.5 centile, as well as lung hypoplasia and restricted limb growth for brain weight standards, although brain weight was only mildly reduced for gestational age. In contrast, subnormal heart weight was much less common among fetuses with other etiologies of hydrops, hygromas, or pleural effusions. CONCLUSIONS: We hypothesize that myocardial hypoplasia is a primary defect in Turner syndrome, and it leads to or is a major contributor to the phenotypic features that end in midgestational death.     

Multiorgan autoimmunity in a Turner syndrome patient with partial monosomy 2q and trisomy 10p

Turner syndrome is a condition caused by numeric and structural abnormalities of the X chromosome, and is characterized by a series of clinical features, the most common being short stature and gonadal dysgenesis. An increased frequency of autoimmune diseases as well as an elevated incidence of autoantibodies has been observed in Turner patients.     

The revealing muteness of rituals: a psychoanalytical approach to a Spanish ceremony

This analysis of a heterodox Corpus Christi ceremony celebrated in Spain emphasizes one of its distinctive features: the ritual is carried out by two moieties, who provide contradictory exegeses of the same ritual performance. Yet, despite their incompatibility, the two theories have a feature in common: the denial of a Jewish presence within the groups that express them. This phenomenon is discussed in the historical context of Christian stereotypes of Jews, enabling recognition of the fact that the ceremonial of Camuñas may be regarded, on a first level of analysis, within the framework of performance theory, as a ritual of memory. Some conceptual tools defined by Sigmund Freud, especially the concepts of negation and disavowal, are then used to analyse the ritual. The denial of reality and the irreconcilable exegeses of the two moieties evoke the split attitude of a fetishist towards castration. Thus, three analytical approaches of increasing depth are proposed to one and the same ritual: structuralist, performative, and psychoanalytical.     

Rare association of Turner syndrome with neurofibromatosis type 1 and tuberous sclerosis complex

We report a rare association of Turner syndrome with both Neurofibromatosis type I and Tuberous Sclerosis. The patient had XOkaryotype with Turners stigmata and also had features of Neurofibromatosis 1 in the form of significant café-au-lait spots and Plexiform neurofibroma along with typical features of Tuberous Sclerosis complex. Pedigree analysis revealed that the elder brother of the proband in the family also suffered from Tuberous Sclerosis without the manifestation of Neurofibromatosis or any other genetic disorders. We hypothesize that these associations could be due to new independent mutations and also increased maternal and paternal age in a pre-disposition of Turner syndrome.     

Laterality: a sideways look at ritual

Much study of ritual has focused on demarcated spaces and times of performance, and the often spectacular features of such collective behaviour provide rich resources for analysis of formal, symbolically dense action. This article shifts attention to dimensions of ritual events that entail zones of ambiguous, diffuse, or limited engagement where the boundaries between participant and non-participant, viewer and viewed, may be unclear. Focusing on visits to the English pilgrimage site of Walsingham, I examine multiple modalities of participation through analysing the relationships among observing, engaging in, and narrating ritual action. In doing so, I develop a lexicon for the study of performances whose ethnographic profile does not stand out in sharp relief. Key terms for my analysis are ‘laterality’ (as opposed to liminality) and ‘penumbra’ (as opposed to centre).     

Dermatoglyphics in turner syndrome

Finger and Palmar dermatoglyphics in 25 karyotypically proven cases of Turner syndrome representing Northwestern region of India are presented and compared with those obtained on their 102 normal female counterparts. Predominance of ulnar loops over other patterns was recorded in turner patients. Mean total finger ridge count in Turner syndrome (147.4) remained higher than the normal females (121.1). c-d interdigital ridge count in turners remained significantly (p≤0.05) higher than their normal female counter-parts. In contrast to their western counterparts distal placement of axial triradius in both the palms of none of the Turner syndrome patients representing the current series was recorded. Occurrence of whorls and arches in hypothenar region of 12% and 4% was respectively noticed in right palm of patients. The use of distinctive dermatoglyphic features recorded amongst Turner syndrome patients representing this study may be made to corroborate diagnosis of this entity in settings where facilities to carry out karyotyping do not exist.     

On religious ritual as deference and communicative excess

I shall argue that most religious ritual is a performance that not only invokes but also performs communication. The ethnographic material from which I derive this argument is from China, in particular the temple rituals of local festivals. My argument is that a deep obeisance of welcome and departure that is both like and not like the normal ritual of greeting marks a religious from a non-religious ritual occasion and place. It is a ritual doubling that makes the honoured guest also a host. Religious ritual is a medium, and as a medium it is double in another sense. It is deference and deferral, a repeated transmission of obeisance to authority that has the authority of repetition. As well as doubling, religious ritual is excessively communicative. The medium is a performance not only of invitation and departure but also of communicative response, and it repeats this communication as a test of communicative response over and over again. Religious ritual performs both the opening and closing of communication, both the seeking and the responsive reciprocation of gift offerings with bounteousness. It is shadowed by the possibility of no response, of giving offence, of being abandoned. This possibility is acknowledged by being prevented, while the possibility that the performers are their own responders is disavowed.     

Innovation and technological knowledge in the Upper Paleolithic of Northern Eurasia

The technology of modern humans is unique in the animal kingdom with respect to its complexity and capacity for innovation. Evidence of technological complexity and creativity in the archeological record is broadly coincident with and presumably related to traces of creativity in art, music, ritual, and other forms of symbolism. The pattern of modern human technology is part of a larger package of behavior (sometimes referred to as “behavioral modernity”) that emerges with the appearance of industries in Eurasia classified as Upper Paleolithic, but has deeper roots in the African Middle Stone Age. 1 - 5 .     

Metaphors of Hierarchy in a Mayan Ritual

Conventional actions denoting differences in rank are considered a central part of a Mayan ritual honoring a local saint and provide the basis for the formal analysis presented here. The ritual elements—acts drawn from daily etiquette and other ritual contexts—are combined in a way consistent with classic theories of ritual. While providing the basis for a formal argument, ways of designating rank order are not treated as "empty ritual": they pose a moral problem for the participants that contributes to the meaning of the ritual itself.     

The Giveaway Ceremony Of Blackfoot And Plains Cree

Abstract

The modern giveaway of the Blackfoot and Plains Cree is described and analyzed. It is a twentieth century development of formal ritual from a more diffuse. nineteenth-century social bonding practice. Today It serves to announce Indian ethnic affiliation social networks, and status ranking     

Del(X)(p21.1) in a mother and two daughters: genotype-phenotype correlation of Turner features

We report a mother and two daughters with partial Xp monosomy. Clinical assessment for Turner phenotype revealed that the three females manifested low-normal to mild short stature (-1.6 to approximately -2.3 SD) and variable degrees of skeletal features, such as cubitus valgus, short 4th matacarpals, and Madelung deformity, but no soft tissue or visceral anomalies or gonadal dysfunction. Cytogenetic studies for lymphocytes showed that the karyotype was 45,X[3]/46,X,del(X)(p21.1)[27] in the mother and non-mosaic 46,X,del(X)(p21.1) in the two daughters. Fluorescence in situ hybridization and microsatellite analyses for 19 loci/regions on the X chromosome demonstrated that the del(Xp) chromosome was missing SHOX and had the breakpoint between DMD and CYBB. The results are consistent with the recently proposed notion that haploinsufficiency of SHOX results in not only short stature, but also Turner skeletal features in association with maturational effects of gonadal estrogens. The lack of soft tissue or visceral anomalies suggests the presence of the putative lymphogenic gene on the del(Xp) chromosome; the preservation of ovarian function appears to be compatible with meiotic pairing failure being relatively mild.