bluuebunny/crossref_metadata_2025 huggingface dataset:
Genetic variability, inbreeding, and reproductive performance in standardbred horses
Authors: Cothran E. Gus , MacCluer Jean W. , Weitkamp Lowell R. , Guttormsen Sally A.
Published: June 2005

The relationships between electrophoretically determined genic variability, inbreeding, and reproductive success have been examined for Standardbred horses. There was a statistically significant relationship between foaling and/or conception rate and probability of offspring heterozygosity in Standardbred pacing horses. This relationship could not be explained by inbreeding depression. Inbreeding, at the level observed in Standardbreds, had little or no effect upon reproductive success. Additionally, there was no relationship between the inbreeding coefficient and the observed level of genetic heterozygosity. The results of these analyses suggest a program of a low rate of inbreeding combined with selection for characteristics associated with overall vigor as a management strategy for captive populations.
Genetic monitors of zoo populations: Morphological and electrophoretic assays
Authors: Wayne Robert K. , Forman Lisa , Newman Andrea K. , Simonson Janice M. , O'Brien Stephen J.
Published: June 2005

Zoo populations can be empirically studied and monitored genetically from three distinct and informative prospectives: (1) the careful collection of breeding and pedigree history; (2) biochemical genetic surveys of gene variation from electrophoretic data; and (3) the extent of variation in morphological characters. We present here a summary of the results and conclusions of biochemical genetic surveys performed to date in mammals and indicate those biochemical genetic loci most likely to be informative in management programs. The results of a number of studies of morphological variation (estimated by coefficients of variation or fluctuating asymmetry) as related to the genetic status of biological populations are reviewed. The applications of such measurements to the characterization of the South African cheetah are reviewed briefly with attention to captive vertebrate species. Specific recommendations for the evaluation of captive populations and for the monitoring of breeding programs by using biochemical and morphological characters are proposed.
Gene survival in the Asian wild horse (Equus przewalskii): I. Dependence of gene survival in the calgary breeding group pedigree
Authors: Geyer Charles J. , Thompson Elizabeth A.
Published: June 2005

The joint probability distribution of the number of distinct (not identical by descent) genes from each founder of the Equus przewalskii population that survive in the five horses of the Calgary Zoological Gardens breeding group has been calculated. The dependence structure of this distribution is investigated, and informative marginal distributions are given, among them the distributions of the genetic contributions of each founder to the Calgary horses and the distribution of wild‐type genes in these horses. The dependence pattern is found to be complex; there is no substitute for exact calculation of the full joint probability distribution of numbers of surviving genes. Probabilities of gene survival give a more complete summary of the genetic structure of a set of individuals than is provided by more routine measures such as heterozygosity or founder contributions. The feasibility of computing these probabilities for small groups of current individuals descended from few founders via long and complex pedigrees, provides a new approach to assessing such groups, and could be used also in selecting animals to form the founder stock of propagules for future reintroduction programs.
Correlates of sexual and maternal competence in captive gorillas
Authors: Beck Benjamin B. , Power Michael L.
Published: June 2005

The captive gorilla population may not be self‐sustaining, in part because the overall birth rate is low and because many potential founders have failed to reproduce. We used questionnaires to collect standardized biographies of every gorilla held in North America. These biographies were searched for factors associated with reproductive success or failure.

Captive‐born gorillas are reproducing at least as well as wild‐borns, when reproductive success is expressed as number of infants per year of reproductive opportunity. Mother‐reared females are reproductively more successful than hand‐reared females, but there is no difference in the reproductive success of mother‐reared and hand‐reared males. Social access to conspecifics in the 1st year is associated with higher reproductive success, at least for females. Reproductively successful and unsuccessful gorillas of both sexes have had equal access to potential mates, but unsuccessful animals are less likely than successful ones to exhibit normal sexual behavior.

We conclude that many cases of reproductive failure are due to deficits in sexual behavior, which in turn may result from lack of early social experience with conspecifics. Some reproductive failure involves medical problems; interventive diagnostic techniques continue to be useful, if only to identify healthy individuals that can be managed intensively.

The probability that a female will be a competent mother is not affected by her being wild‐born or captive‐born, or mother‐reared or hand‐reared.
Evaluation of the role of refugia in conservation efforts for the Devils Hole pupfish, Cyprinodon diabolis Wales
Authors: Baugh Thomas M. , Deacon James E.
Published: June 2005

The Hoover Dam Refugium was built to help insure the survival of the Devils Hole pupfish during an especially critical period. It served that purpose well. The Amargosa Pupfish Station added an additional, nearly identical artificial habitat to use in conservation and management of the Devils Hole pupfish. Contemporary concerns of conservation biology suggest that: 1) Genetic diversity or homogeneity of refugium populations should, when possible, be established by biochemical and morphological techniques; 2) protection of the natural habitat has been effected, and population levels have returned essentially to normal, therefore, management intervention in the natural population is not now appropriate; 3) refugium populations represent a unique opportunity to develop information useful in conservation and management of small populations of endangered fishes, if legal restrictions to such investigations can be accommodated; and 4) refugia, dependent on human activities for construction and maintenance, are less reliable than natural habitats.
Characteristics of fresh and cryopreserved Siberian tiger (Panthera tigris altaica) semen and its seminal plasma chemical constituents
Authors: Schmehl M. K. , Graham E. F. , Byers A. P. , Hunter A. G.
Published: June 2005

Semen was collected by electroejaculation from four Siberian tigers. The cells were separated from the seminal plasma by centrifugation, extended in TEST‐yolk buffer with 4% glycerol and frozen for a Sephadex filtration assay. The seminal plasma was analyzed for chemical constituents and characteristics.

There were significant differences between tigers for volume, cell concentration, pre‐ and post‐thaw motility, total cells, percent live/normal cells, pH, specific gravity, albumin, alkaline phosphate, alanine transaminase, aspartate transaminase, total protein, urea nitrogen, potassium, chloride, carbon dioxide and glucose. There were no differences between tigers for total live cells, osmotic pressure, acid phosphatase, sodium, phosphorus, calcium, or creatinine. There were significant differences between months only for pre‐freeze motility, albumin, chloride, carbon dioxide, and calcium. The differences in seminal plasma chemistry may be useful for semen quality evaluation after successful breeding techniques have been developed. As the data base of information concerning the reproductive physiology of tigers increases, application of advanced technologies may become a reality.
Serving science and conservation: The biological materials request protocol of the New York Zoological Society
Authors: Hutchins Michael
Published: June 2005

Biological materials obtained during routine veterinary treatment and necropsies on zoo and aquarium animals provide opportunities to study a wide variety of phenomena, many of which have important implications for wildlife conservation and captive animal management. Collection and shipment of biological materials require extensive coordination, and few zoological institutions have developed detailed, standardized protocols to facilitate these efforts. The value of using biological materials is reviewed and a set of policies and guidelines are outlined for their collection, preservation, and shipment. Several related issues are discussed, including health hazards and liability issues, permit requirements, and animal welfare considerations.
The relationship between forage material and levels of coprophagy in captive chimpanzees (Pan troglodytes)
Authors: Fritz Jo , Maki Susan , Nash Leanne T. , Martin Timothy , Matevia Marilyn
Published: June 2005

Although coprophagy is practiced in the wild by chimpanzees (Pan troglodytes), it occurs more frequently and under more varied circumstances in captivity. This study was designed to determine if different forage materials and amount of residual undigested grain particles found in the feces might cause an increase in coprophagous behavior in those animals which already exhibited the behavior. A possible effect of availability of seed pits and fibrous leaves for “wadge” making, a typical chimpanzee behavior, on levels of coprophagy was also considered. Observations for coprophagous behavior were conducted on 65 juvenile, adolescent, and adult chimpanzees. Coprophagy levels were significantly lower with popcorn than either chicken scratch or sweet feed. A significant increase in coprophagy was noted for all weeks of forage types when tested against the wadge weeks. Residual grain content analysis showed no significant difference in coprophagous behavior between any of the testing conditions. Decreasing levels of coprophagous behaviors may be assisted by the provision of wadge materials. © 1992 Wiley‐Liss, Inc.
Roth's theorem for ruled surfaces
Authors: Gasbarri C. , McQuillan M.
Published: June 2005

This paper addresses conjectures of E. Bombieri and P. Vojta in the special case of ruled surfaces not birational to [inline-graphic xmlns:xlink="http://www.w3.org/1999/xlink" xlink:href="01i" /]. Apart from this implicit restriction to [inline-graphic xmlns:xlink="http://www.w3.org/1999/xlink" xlink:href="02i" /] bundles S over an elliptic curve, the ultimate question of the arithmetic of pairs ( S, D ) for a divisor D requires further restrictions on D which turn the proposed conjectures into the study of Roth's theorem on approximation of algebraic numbers α, but for α now parametrized by an elliptic curve. With these restrictions, best possible answers are obtained. The same study may also be carried out for holomorphic maps, and this is done simultaneously.
Warscape Ethnography in West Africa and the Anthropology of "Events"
Authors: Hoffman Danny , Lubkemann Stephen C.
Published: June 2005

This article introduces some of the challenges of doing ethnography in contexts such as Liberia, Sierra Leone, and Guinea—places where violence and the certainty of uncertainty have become the backdrop for social interaction. It also considers the potential contributions to anthropological theory of such an undertaking. In particular it outlines a fundamental re-orientation towards the concept of "the event." Drawing contrasts with conventional anthropological understandings of how small scenarios (social situations) and paradigmatic social events (rituals) speak to broader processes, this piece argues for an analytical recasting of the "event" as a moment in which cultural creativity is harnessed to the tasks of effecting and legitimizing the social transformations that crises often demand. Such "events" affirm the continuity of social groups even as they participate in the re-organization of social practice and are thus ultimately relevant to any anthropology of actors who confront and seek to effect change.
The Narrator's Voice: A Narratological Reappraisal of Apostrophe in Virgil's Aeneid
Authors: Behr Francesca D'Allesandro
Published: June 2005

The ultimate effect of Virgilian apostrophe is debated. Some critics see in Virgil's apostrophe the narrator's sympathy for the victims of a war, and others, such as G. B. Conte, find that apostrophe actually helps to distance the narrator from the defeated. In this article, the argument is made that the treatment of apostrophe is tied to the problem of representing both grief and narrative closure. Apostrophe reveals another level of commentary on the suffering caused by Aeneas's war in Latium. A narratological approach to this topic shows that, in apostrophe, Virgil both confirms the importance of Roman imperium and also questions whether its cost is not too high.
Philosophy, Elenchus, and Charmides' Definitions of Î£Î©Î¦Î¡ÎÎ£Î¥ÎÎ
Authors: McCoy Marina Berzins
Published: June 2005

This paper explores why Socrates' elenchic questioning of Charmides seems to fail to change Charmides' beliefs or character. Charmides offers three definitions of ΣΩΦΡΟΣΥΝΗ or moderation. Charmides' responses to Socrates show that he vacillates between unquestioning reliance upon his own beliefs and abandonment of those beliefs in favor of obedience to others. I show that both extremes cause his failure to progress in the elenchus. The dialogue suggests that an understanding of human knowledge as partial or incomplete is necessary for philosophical progress. The Charmides argues for a kind of philosophical ΣΩΦΡΟΣΥΝΗ as a condition for good inquiry.
In the Court of Time: The Reckoning of a Monster in the Apocolocyntosis of Seneca
Authors: Robinson Timothy J
Published: June 2005

Seneca's Menippean satire, the Apocolocyntosis is constantly interrupted by digressions containing apparently extraneous matter about astrological and seasonal phenomena surrounding the central events—an important device known as temporal periphrasis. But the motif of time, in and of itself, is molded by Seneca to provide particular perspective to the characters of the Apocolocyntosis. Temporal transitions and periphrases are transformed into dominant narrative devices that often dwarf and tacitly critique the characters and events that they would be expected merely to frame. The description of Claudius's final days, death, and afterlife is interrupted by numerous temporal and historical digressions, and this disjointed narrative befits the monstrous physical and moral character of the emperor. The insipid language of the central panegyric to Nero has attracted critical comment, and this study concludes with a close reading of this section, which reveals several ambiguities in the praise of the emperor. The location of the panegyric is problematic, interrupting the account about Claudius. Nero is surrounded by the scatology, monstrosity, and buffoonery connected with Claudius' life and death. Instead of being located in the satire as successor to Claudius and being praised at the end of the narrative, Nero is embedded within it. But of most significance is the employment of the imagery of temporal periphrasis in praising Nero. He is compared with stars in flight, the evening star, and the sun at dawn—all of which call to mind the stale images of Epistle 122, as well as those of the numerous temporal digressions of the Apocolocyntosis. Character has been subordinated to abrupt narrative transitions, shifts, and temporal periphrases, and the two emperors Claudius and Nero have become part of the machinery of the Apocolocyntosis and absorbed into its temporal collapse.
Performing Australian Identity: Gendering King Lear
Authors: Kelly Philippa
Published: June 2005

A discussion of contemporary contexts for Australian feminist identities may find an unlikely focus in a centuries-old British play about an elderly patriarch. This essay takes as its starting point this incongruity, arguing that any sense of King Lear's contemporary value for feminism draws upon a history of discussion and debate—about Britishness, authenticity, about indigeneity—that has helped to shape Australian cultural formations. Beyond the question of what gender-interested performances can "do" with King Lear, this essay is interested in how Australian feminists understand themselves in engaging with the play.
Evolution of infectious disease: A biocultural analysis of AIDS
Authors: Armelagos George J. , Ryan Mary , Leatherman Thomas
Published: June 2005

The evolution of infectious disease can be understood from an ecological model that incorporates information from anthropology, epidemiology, and biomedicine. This model considers variables such as the pathogen, the host population, and the environment. In this model, the role that culture as well as other environmental variables plays in the transmission of infectious disease in human populations is considered. In addition, the sociocultural response and its impact on the disease process can be analyzed. The present AIDS epidemic is placed in an ecological and evolutionary context of the disease in hominid evolution. The interaction between Human Immunodeficiency Virus (HIV) and human populations is considered in this perspective. The ability of the virus to survive in semen and blood both increases as well as limits the possibility of transmission. Cultural practices that increase the transmission of blood and semen or increase sexual activity will obviously increase the potential risk of viral transmission. In societies that practice exchange of blood, blood transfusion, and where vaccinations with unclean needles exist or where there is intravenous (IV) drug use, the transmission of HIV by blood is enhanced. HIV which can cause a breakdown of the immunological system is paradoxically a very fragile pathogen. Replication occurs within T‐cells, an important part of the immunological system. Outside of the blood or semen the virus dies quickly. From the perspective of the pathogen's adaptation, the virus has effectively solved the problem of survival. The fragile virus's long incubation period and its ability to survive in the presence of antibodies help to assure its transmission. HIV's ability to suppress the immunological system may assure its immediate survival, but this adaptation may cause the death of its host from other opportunistic pathogens that are usually not lethal.
AIDS in Africa: A bioanthropological perspective
Authors: McGrath Janet W.
Published: June 2005

The epidemiological characteristics of acquired immunodeficiency syndrome (AIDS) in Africa are reviewed. Infection rates with human immunodeficiency virus 1 (HIV‐1) and human immunodeficiency virus 2 (HIV‐2) vary across the continent of Africa with the highest infection rates occurring in East and Central Africa. The primary pattern of infection with HIV‐1 is characterized by high rates of heterosexual vs. homosexual transmission, a low male to female sex ratio of cases, and high rates of pediatric AIDS. Cultural anthropologists have emphasized variation in human sexual behavior as an important factor in understanding the HIV epidemic. These studies have focussed on understanding the range of sexual risk behaviors present in different cultures and the cultural meanings of these behaviors. Biological anthropologists approach the study of human disease with an interest in human biological variation, evolutionary models, and the interface between biology and behavior. A Bioanthropology Research Agenda for AIDS is proposed which focuses on these three areas. Potential research domains for biological anthropologists include: human biological variation and cofactors of infection and disease, the evolutionary impact of HIV infection, and the interface between biology and behavior and the biological impact of behavior. Working with colleagues in other disciplines, biological anthropologists can assist in furthering understanding of the variables of HIV infection and disease.
Environmental context, social interactions, and the spread of HIV
Authors: Sattenspiel Lisa , Castillo‐Chavez Carlos
Published: June 2005

The spread of HIV through a population is influenced by many factors. These include the frequency and type of sexual activity, age distribution of the population, use of intravenous drugs and behaviors associated with their use, the pattern of infectivity of the virus during the several stages of the infection, geographic location, and the patterns of interaction among individuals and the context in which those interactions occur. A number of questions about the natural history and epidemiology of AIDS remain unanswered. Since the disease has only recently been recognized, historical data are unavailable to aid in answering these questions. Mathematical models provide one approach that can be of use in understanding the spread of the disease. Because of the complexity of the biology and epidemiology of AIDS, useful models must focus on specific aspects of the disease. In addition to a brief review of existing models for the spread of AIDS, a new model which incorporates the effects of social context operating at the time of a sexual encounter is described. The model considers the spread of the disease in a population of homosexual men divided into groups based on relative risk for the disease. Individuals are assigned to a specific group on the basis of their normal sexual activities, but they may take on the characteristics of a different risk group temporarily given the conditions operating when they engage in a sexual encounter. Results from preliminary analyses of the new model indicate that the major effects of incorporating social context include a decrease in the number of cases of the disease, sometimes by an order of magnitude or more, delayed spread of the disease, and a decreased impact of the disease on low and medium risk groups.
Association of ABO phenotypes and body weight in a sample of Brazilian infants
Authors: Kelso A. J. , Siffert Tobi , Maggi Wynne
Published: June 2005

The relationship between body weight and ABO blood types was examined in a sample of infants included in a sample of Brazilian migrant families collected by N.E. Morton 30 years ago. The results, obtained by one‐way analyses of variance using SPSS Release 4, indicate: (1) an excess of females (N = 85) over males (N = 56) due almost entirely to an excess of type A and type B females, (2) no significant differences in body weight by ABO blood type among the male infants, (3) differences between type A females and types O and B female infants with type A females significantly heavier (P = .009) than the other phenotypes, and (4) infant daughters, regardless of ABO phenotype, born to type A mothers are significantly heavier than infant daughters born to type B mothers (P = .016). The results are consistent with earlier work of Kircher (1963), Reed (1967), and Clausen and Hakomori (1989), and suggest that selection on the ABO system may act very early in ontogeny and may act on females and not on males. © 1992 Wiley‐Liss, Inc.
Postpartum nutritional status of Filipino women
Authors: Adair Linda S.
Published: June 2005

Postpartum weight, body mass index (BMI), triceps skinfold thicknesses (TSF) and upper arm circumferences (AC) were measured bimonthly for 24 months in a large cohort of urban and rural Filipino women. Weight loss, leading to an increasing prevalence of low BMI (<18.5) is the norm in this population where dietary intakes of energy, calcium, and iron fall below WHO recommended intakes. The effects of lactation on postpartum changes in weight and TSF during 6‐month intervals were examined by stratifying women into groups defined by lactation duration. In addition, multivariate models were used to examine the effects of lactation on changes in weight or TSF while controlling for other factors such as energy intake, seasonality, morbidity, pregnancy interval, parity, and age. Lactation was associated with significantly increased weight losses from birth to 18 months postpartum. Furthermore, full lactation (breast‐feeding with the addition of less than 20 kcal/day to the infant's diet) also significantly increased weight loss in the first 6 months, when the overall duration of lactation in that interval was controlled. Lactation had a small but statistically significant effect on changes in TSF as well. © 1992 Wiley‐Liss, Inc.
Maximal mechanical aerobic and anaerobic power output of low‐income Brazilian schoolchildren as a function of growth
Authors: Anjos Luiz A. , Boileau Richard A. , Misner James E.
Published: June 2005

Maximal mechanical aerobic and anaerobic power outpout (POWER) on a cycle‐ergometer were measured in 131 children (60 girls and 71 boys) 8 and 9 years of age attending a public school in a low‐income area in Rio de Janeiro (RJ), Brazil. Deficits in stature were classified relative to American reference data (NCHS) to identify three groups of children: Group A, Z‐score of stature for age (S‐Age) ≥ 0 (no deficit); Group B, – 1 < Z S‐age < 0 (moderate deficits); and Group C, Z S‐age ≤ −1 (greatest deficit). A two‐way ANOVA with interaction was used to assess the influence of growth and sex on performance. There were no differences between sexes in anthropometric dimensions but boys had significantly greater estimated upper arm muscle + bone area than girls and also performed better on both tests. Deficits in stature negatively influenced (P < 0.05) aerobic and anaerobic function expressed in absolute values. However, when expressed in relation to body size, POWER and the anaerobic to aerobic ratio values were, in general, not significantly different among the groups. In conclusion, children living in underprivileged environments show deficits in growth, but appear to maintain a level of performance proportional to their smaller body size. From a practical point of view, however, the absolute functional capacity value may be more important, because under such underprivileged conditions, it is the total amount of work produced which determines work capacity in adult life and thus, may determine physical, economic, and social well‐being. © 1992 Wiley‐Liss, Inc.
One year follow‐up study of stature, weight, emergence of dentition, and sexual maturation of well‐nourished indian girls from birth to 20 years
Authors: Kaur Balvinder , Singh Raghbir
Published: June 2005

Stature, weight, and emergence of deciduous and permanent teeth of 1,330 well‐nourished girls from birth to 20 years belonging to well‐off families residing in Delhi are reported. All subjects were measured on two occasions 1 year apart. In addition, each subject was examined for gingival emergence of deciduous or permanent teeth on both occasions. Data on age at menarche were also collected. Single‐year velocities of stature and weight are highest during the first year. The peak of adolescent spurts in stature and weight velocities are observed at 11.0 and 12.0 years, respectively. The first deciduous tooth to emerge is the mandibular I1, of girls at 7.6 months. The sequence of emergence based on ascending median ages is I1, I2, M1, C, and M2 for both maxillary as well as mandibular deciduous teeth. The permanent dentition starts with the emergence of mandibular M1 at 5.75 years. The sequence of emergence of permanent teeth is M1, I1, I2, PM1, C, PM2, and M2 in the maxilla, and M1, I1, I2, C, PM1, PM2, and M2 in the mandible. Annual increase in number of permanent teeth erupted shows a spurt between 9 and 10 years of age. Median age at menarche is 12.37 ± 0.03 with a standard deviation of 0.8 years; it is about one and one‐half years later than the estimated age at peak height velocity. Single‐year velocities of stature and weight decline after the onset of menarche. An association of emergence of deciduous teeth with birth weight is observed. Newborns with higher birth weight tend to have more teeth emerged at one year of age compared to those having lower birth weight. In all age groups, girls who had experienced menarche are taller and heavier and have more erupted permanent teeth compared to those who have not yet attained menarche. Girls with earlier menarche apparently have short adult stature compared to those with later menarche. © 1994 Wiley‐Liss, Inc.
Growth and fitness of Canadian inuit: Secular trends, 1970–1990
Authors: Rode Andris , Shephard Roy J.
Published: June 2005

The growth and development of Inuit children and adolescents living in the high arctic (Igloolik, NWT, 69°40′ N, 81°W) has been surveyed crosssectionally and semilongitudinally on three occasions during a period of rapid acculturation: 1969–1970, 1979–1980, 1989–1990. Recruitment declined from 85% (1969–1970) to 63% (1989–1990) of eligible subjects, in the most recent survey a total of 91 males and 65 females. Secular trends in the community have included a change from nomadic to settled life, improved access to health care, reduction of average family size, a progressive shift from country to market foods, the introduction of a 12‐grade school, and a progressive reduction of habitual physical activity with the advent of television and video programs. The stature of the youngest students has tended to increase by ∼1cm/decade, possibly as a consequence of dietary changes and resultant earlier maturation, but the stature of older adolescents has tended to decrease, possibly as a consequence of spinal trauma sustained during high‐speed snowmobile operation. In the boys, the estimated onset of rapid pubertal growth has advanced from an age of 13–14 to 12–13 years, and in the girls, the period of rapid growth is now already established at 11 years. Over the 20 years of observation, skinfold thicknesses at any given age have increased, handgrip and knee extension forces have diminished, and relative aerobic power has also decreased. In consequence, the current generation of Inuit children are no more fit than their sedentary peers in southern Canada. © 1994 Wiley‐Liss, Inc.
The trisomy 4p syndrome: Case report and review
Authors: Gonzalez Claudette Hajaj , Sommer Annemarie , Meisner Lorraine F. , Elejalde B. Rafael , Opitz John M. , Francke U.
Published: June 2005

We report a further case of trisomy 4p: a 5‐year‐old mentally retarded boy with characteristic facial features, eye abnormalities, flexion contractures, several bone anomalies, and hyperactivity.

In a review of 27 cases (11♂, 16♀, 22 families) the cytogenetic and clinical data were tabulated and analyzed. Diagnosis is established by karyotype: there is always partial or apparently “total” trisomy of the short arm of chromosome 4. In 19 families a parent carried either a balanced translocation (16 times) or a pericentric inversion (3 times); 3 patients had de novo duplication of 4p. In several cases, additional deletions or trisomies were present. From the analysis of all cases, but particularly of the “pure” trisomies, the phenotypic spectrum of this condition was observed and found to be a specific multiple congenital anomaly/mental retardation (MCA/MR) syndrome. Its main features are a characteristic facial appearance, postnatal growth retardation, severe psychomotor retardation with or without seizures, microcephaly, and various major and minor anomalies.
Sporadic case of apparent aprosencephaly
Authors: Adkins W. N. , Kaveggia Elisabeth G.
Published: June 2005

We report a sporadic case of apparent aprosencephaly, ie, apparent absence of forebrain with the facial anomalies of the (alobar) holoprosencephaly field complex. The infant lived 14 months, manifested temperature variations between 34.5 and 41.7°C, and suffered at least one episode of severe hyponatremia suggesting hypoaldosteronism of brain or adrenal origin. Eye changes were suggestive of Rieger mesodermal dysgenesis.
The Dubowitz syndrome: The psychological status of ten cases at follow‐up
Authors: Parrish J. M. , Wilroy R. S. , Lowry R. Brian
Published: June 2005

We report the psychological status of ten people with the Dubowitz syndrome, an autosomal recessive condition characterized by intrauterine and postnatal growth retardation, microcephaly, and high‐pitched hoarse voice. Results indicate that the level of intellectual functioning among children with Dubowitz syndrome varies from severe retardation to average intelligence. Our patients have delays in the development of memory, reasoning, expressive vocabulary, fine motor development, and receptive vocabulary, in order of ascending frequency. Data regarding growth status, level of adaptive functioning, and presence of behavioral deficits are also presented.
Prenatal diagnosis of neural tube defects: Predictive value of AF‐AFP in a low‐risk population
Authors: Fisher Nancy L. , Luthy David A. , Peterson Alan , Karp Laurence E. , Williamson Roger , Cheng Edith , Opitz John M.
Published: June 2005

Amniotic fluid alpha‐fetoprotein (AF‐AFP) determinations were performed on 1,215 women who were at low risk for fetal neural tube defects and who were undergoing mild‐trimester amniocentesis for cytogenetic indications, primarily age‐related aneuploidy. Maternal sera obtained before amniocentesis and amniotic fluids were assayed in duplicate for alpha‐fetoprotein by radio‐immunoassay. Of the 1,215 low‐risk women, eight (0.7%) had significant elevations of AF‐AFP (≥ +5 SD). In none of the cases was the elevation associated with a fetal neural tube defect. Two cases with elevated AF‐AFP were associated with chromosome aberrations; one with impending fetal demise; one with fetal blood contamination; and one case was due to a laboratory error. In one case, no source for the elevated AFP was found, and a normal infant was delivered at term. In the final two cases, the cause of the elevated AF‐AFP was a fetal abdominal wall defect (one gastroschisis and one omphalocele). The predictive value of an elevated AFP varies with the population screened, and is reduced by routine ultrasonography before amniocentesis, which at least identifies anencephaly. In a low‐risk population, an elevated AF‐AFP is most often not associated with a fetal neural tube defect. Because of the low predictive value and the nonspecificity of AF‐AFP, genetic counselors should reconsider the recommendation of routine AF‐AFP in low‐risk maternal populations.
Hepatic involvement in the Bardet‐Biedl syndrome
Authors: Pagon Roberta A. , Haas Joel E. , Bunt Ann H. , Rodaway Keith A. , Opitz John M.
Published: June 2005

A 12‐year‐old boy with the Bardet‐Biedl syndrome (retinal dystrophy, polydactyly, mental retardation, and mild obesity) died of renal failure and was found to have hepatic fibrosis. Nephropathy and hepatic fibrosis in the Bardet‐Biedl syndrome suggest pathogenetic similarity of autosomal recessive disorders in which retinal dystrophy, hepatic fibrosis, and a nephronophthisis‐like disorder are associated.
Monozygotic twins discordant for Ullrich‐Turner syndrome
Authors: Weiss Edra , Loevy Hannelore , Saunders Antoinette , Pruzansky Samuel , Rosenthal Ira M. , Opitz John M.
Published: June 2005

Ullrich‐Turner syndrome occurred in one of a pair of female twins. The chromosome constitution of the affected twin was 45,X/46,XX and that of the normal twin 46,XX. Investigation of banded chromosomes, red cell antigens, HLA types, red cell enzymes, and serum proteins indicates monozygosity. The twins are discordant for height, pterygium colli, ovarian function, strabismus, dental eruption, external ear formation, hearing loss, and performance scores on the Wechsler Intelligence Test. All of these differences can be attributed to X monosomy in one cell line in the affected twin, presumably resulting from mitotic nondisjunction or anaphase lag early during embryonic development. Ten other pairs of apparently monozygotic twins discordant for the Ullrich‐Turner syndrome have been reported previously, and the findings in these cases are reviewed.
A 15 → 1 translocation in a patient mosaic for presence or absence of an isodic(15p)(q11)
Authors: Wulfsberg Eric A. , Sparkes Robert S. , Klisak Ivana J. , Gurfield William B. , Opitz John M.
Published: June 2005

We report a patient with a 15 → 1 translocation who was mosaic for presence or absence of an isodic(15p)(q11). Her phenotype is similar to that of patients with deletions of proximal 15q or isodic(15p). Several phenotypes, including the Prader‐Labhart‐Willi syndrome, have been described with abnormalities of proximal 15q and have in common severe hypotonia, developmental delay, and lack of major congenital anomalies. Our patient is the first to be described with an isodic (15p)(q11) associated with a nonreciprocal translocation. We think her isodic(15p)(q11) arose as a result of a sister chromatid fusion rather than nonsister chromatid exchange as has been proposed in most other cases. Because of the various phenotypes described with proximal 15q abnormalities, we recommend caution in the assignment of specific phenotypes to small chromosome changes in this area.
Homozygous achondroplasia with survival beyond infancy
Authors: Pauli Richard M. , Conroy Mary M. , Langer Leonard O. , McLone David G. , Naidich Thomas , Franciosi Ralph , Ratner Ian M. , Copps Stephen C. , Opitz John M.
Published: June 2005

Homozygous achondroplasia has been thought to be uniformly lethal in the neonatal period. We describe three children, born to achondroplastic parents, who were homozygous for this disorder but who survived beyond early infancy. Two died suddenly at 37 and 33 mo; the third survives at 29 wk. At least in some instances aggressive treatment may allow others with this condition to survive with a reasonable quality of life.
The cerebrohepatorenal syndrome of Zellweger, morphologic and metabolic aspects
Authors: Kelley Richard I.
Published: June 2005

The cerebrohepatorenal syndrome of Zellweger (CHRS) is remarkable not only for a distinctive combination of congenital anomalies, but also for an unusual variety of profound metabolic disturbances. After a discussion of the clinical diagnosis of CHRS, abnormalities in the metabolism of peroxisomes, mitochondria, iron, pipecolic acid, glycogen, bile acids, and organic acids are discussed and related to the clinical and other biochemical findings in the syndrome. Attention is also drawn to syndromes with biochemical or clinical abnormalities similar to those of CHRS. Although the biochemical findings indicate major abnormalities in oxidative metabolism, the primary defect remains obscure.
Reproductive risks for translocation carriers: Cytogenetic study and analysis of pregnancy outcome in 58 families
Authors: Neri Giovanni , Serra Angelo , Campana Mauro , Tedeschi Bruna
Published: June 2005

Here we report on studies of the reproductive risks for heterozygous carriers of chromosome translocations. Pregnancy outcome, breakpoints, mode of segregation of the translocated chromosomes, and resulting chromosome imbalance were analyzed in 58 families (46 with reciprocal and 12 with Robertsonian translocations) ascertained for birth of a malformed child, recurrent spontaneous abortion, or hypogonadism. These families include a total of 122 informative sibships. The analysis of the data, after correction for ascertainment bias, showed that the incidence of spontaneous abortion is nearly 50% in reciprocal and between 20 and 25% in Robertsonian translocation families ascertained for malformed child or recurrent abortion. The risk of malformed infants with unbalanced genome is approximately 6% among the liveborn offspring of reciprocal translocation carriers and 23% among the liveborn offspring of carrier mothers of t(14q21q). The distribution of the breakpoints on the chromosomes involved in reciprocal translocations ascertained through a malformed child is nonrandom, with an excess on chromosomes 5, 9, 13, and 15. The study of chromosome imbalance, expressed as gain or loss of a portion of genetic information relative to the total haploid autosome length (percent HAL), shows that among the common types of disjunction‐segregation leading to unbalanced gametes, adjacent 1 seems to be the one producing on the average the least level of genome imbalance. This explains why it is the most frequently observed type of segregation giving rise to gametes from which subjects with a chromosome imbalance compatible with life can be generated.
Ring chromosome 6: Variability in phenotypic expression
Authors: Peeden J. N. , Scarbrough P. , Taysi K. , Wilroy R. S. , Finley S. , Luthardt F. , Martens P. , Howard‐Peebles P. N. , Opitz John M.
Published: June 2005

We present four children with a ring chromosome 6. Clinically, these cases are quite variable. A review of ten previously reported cases also suggests difficulty of phenotype‐karyotype correlation in patients with a ring 6.
The inheritance of immunoglobulin E: Genetic linkage analysis
Authors: Meyers D. A. , Hasstedt S. J. , Marsh D. G. , Skolnick M. , King M.‐C. , Bias W. B. , Amos D. B. , Opitz John M.
Published: June 2005

Linkage analyses between 21 genetic markers including HLA‐A, B, and the postulated locus for determining total serum IgE levels were done to try to clarify the inheritance of total IgE levels and to map the locus. A total of 316 individuals from five Mormon kindreds were studied, and data from an additional 204 Amish individuals from 11 families were analyzed for possible HLA linkage. Segregation analyses of both data sets did not give clear definition of the mode of inheritance of total IgE levels, but purely environmental models were rejected. Linkage analyses gave significant evidence against HLA linkage with the codominant, recessive, or dominant model of inheritance for total IgE levels. No significant evidence for linkage with any of the genetic markers was obtained. Since total serum IgE levels are correlated with allergies, understanding the genetics of total IgE levels is important to understanding the genetics of allergic disease in man.
Teratogenicity of anticonvulsant drugs. II: A prospective study
Authors: Kelly Thaddeus E. , Edwards Pamela , Rein Marjorie , Miller James Q. , Dreifuss Fritz E.
Published: June 2005

To 468 women with epilepsy enrolled in the study, 171 children were born and evaluated prospectively. The mothers in this group were characterized by low socioeconomic status, high frequency of tonic‐clonic generalized seizures, and use of combinations of anticonvulsants. Approximately 30% of infants exposed to diphenylhydantoin in utero had minor craniofacial and digital changes. The infants did not show an increased rate of growth retardation, mental retardation, or major malformations. It is suggested that the nature of the association of birth defects and maternal epilepsy is complex and that the teratogenicity of anticonvulsant drugs plays only a minor role in this association. The sample size necessary to demonstrate a two‐ to threefold increase in malformations is beyond the capability of a single center.
Teratogenicity of anticonvulsant drugs. III: Radiographic hand analysis of children exposed in utero to diphenylhydantoin
Authors: Kelly Thaddeus E.
Published: June 2005

As part of a prospective study of the teratogenicity of anticonvulsant drugs, hand radiographs were obtained on 51 children born to epileptic mothers. The phalanges and metacarpals were measured and a diagnosis of distal digital hypoplasia (DDH) was made if the distal phalangeal to other digital bone ratio was more than 2 SD below the mean for age in at least two of the digits. By these criteria, roughly 30% of infants exposed to diphenylhydantoin in utero demonstrate DDH; this was in close agreement with the clinical diagnosis of DDH. The data suggest that there is no familial tendency to the expression of this teratogenicity, there is no sex influence, there is no difference between exposure to diphenylhydantoin alone and diphenylhydantoin in combination with other anticonvulsants, and that the digital changes occur most often in the absence of other sequelae of in utero exposure to diphenylhydantoin.
Teratogenicity of anticonvulsant drugs. IV: The association of clefting and epilepsy
Authors: Kelly Thaddeus E. , Rein Marjorie , Edwards Pamela
Published: June 2005

Cleft lip with or without cleft palate (CL/P) is the most common congenital malformation reported among infants of epileptic mothers. This study sought to examine the relative roles of anticonvulsant teratogenicity and other factors responsible for this association. Among 175 families with a proband with isolated CL/P, there were 13 parents with epilepsy and a high frequency of other family members with CL/P and epilepsy. Evaluation of the 13 cases suggested that teratogenicity of anticonvulsant drugs was not the primary factor responsible for the observed association of maternal epilepsy and clefting. Among 140 families with a proband with clefting other than CL/P, there were no instances of parental epilepsy observed.
Familial recurrence of geleophysic dysplasia
Authors: Koiffmann C. P. , Wajntal A. , Ursich M. J. M. , Pupo A. A.
Published: June 2005

We describe a girl with the manifestations of geleophysic dwarfism: small stature, a peculiar but pleasant and good‐natured facial appearance, a dysostosis‐multiplexlike bone dysplasia affecting predominantly hands and feet, hepatomegaly and stenosis, and insufficiency of the aortic valve. The proposita's sister died of heart failure at 3 years and was reported by the mother to have been a tiny child with small hands.
Geleophysic dysplasia
Authors: Spranger Jürgen , Gilbert Enid F. , Arya Sunita , Hoganson George M. I. , Opitz John M.
Published: June 2005

On the basis of three affected sibs and one isolated case from the literature geleophysic dysplasia is defined as an acrofacial dysplasia with a peculiar, good‐natured facial appearance, short hands and feet due to short, plump tubular bones, small stature, and progressive valvular cardiac disease. It seems to be a hereditary disorder of glycoprotein metabolism with autosomal recessive transmission.
Direct intrachromosomal duplication of 16q and heritable fragile site fra (10) (q25) in the same patient
Authors: Romain Dennis R. , Frazer Allan G. , Columbano‐Green Letizia M. , Parfitt Richard G. , Smythe Rosalind H. , Chapman Cyril J.
Published: June 2005

We describe a woman with profound mental retardation and a direct duplication of 16q and fragile site fra (10)(q25). The identification and possible origin of the duplicated 16q is discussed along with the clinical manifestations. To our knowledge this is the first direct duplication of 16q to be reported. The karyotype is shown to be 46,XX, dir dup (16) (q11.2 → q13).
Linkage relationships between a major gene for catechol‐o‐methyltransferase activity and 25 polymorphic marker systems
Authors: Wilson A. F. , Elston R. C. , Siervogel R. M. , Weinshilboum Richard , Ward L. J.
Published: June 2005

Segregation analysis has provided evidence suggesting the existence of a major gene for catechol‐o‐methyltransferase (COMT) activity in man. Five large families (4 Caucasian, 1 black), with a total of 1,189 individuals, were ascertained as part of a genetic study of blood pressure. Erythrocyte COMT activity and status at 25 polymorphic genetic marker loci were determined on more than 518 individuals in these pedigrees. Genetic linkage analysis of COMT with each of the 25 marker loci was performed in two ways: (1) using parameter estimates from segregation analysis of untransformed COMT activity, and (2) using parameter estimates from segregation analysis of the power transformation of the COMT activity that maximized the likelihood of the genetic hypothesis in each family. Tight and close linkage were excluded at 21 and 15 loci, respectively. A lod score of 1.27 at θ = 0.1 was found between the loci for COMT activity and phosphogluconate dehydrogenase (PGD). Transformation of the data had little effect on the outcome of the linkage analysis.