bluuebunny/crossref_metadata_2025 huggingface dataset:
Linear statistical model for growth in stature from birth to maturity
Authors: Reed Robert B. , Berkey Catherine S.
Published: June 2005

A model for the physical growth of individual children from birth to adulthood is proposed which is linear in the model parameters. The advantages of linear over nonlinear models include the relative ease and costs of fitting the model to data of individuals and the fact that statistical methods are more readily available for analysis of parameters from linear models than for nonlinear models. The proposed linear model and the non‐linear triple logistic model are both fit to the measured lengths of two boys and two girl followed from birth to 18 years of age.
Relation of community size to endogamy in a traditional soceity: Pátzcuaro, Mexico, 1903–1932
Authors: McCullough John M.
Published: June 2005

Community endogamy is often a preferred cultural practice, although in traditional populations small community size make universal endogamy difficult for lack of appropriate mates. Using civil marriage records from an early 20th century Tarascan Mexican population, the association of local community size, transferred to long values, and endogamy is tested using 2,663 marriages for 40 locations situated in two municipios (counties) forming the Southwest rim of lake Pátzcuaro. The association is linear, with a correlation coefficient of 0.62 for completely endogamous marriages and 0.55 for individual endogamy. If the two municipio cabeceras (county seats) are removed, the r values improve to 0.83 and 0.80 (all at P < 0.001), respectively. Community size is thus important, but in a complex settlement area central place locations, such as the cabeceras, also exert a strong disruptive influence on the simple pattern.
Cause‐specific mortality, life expectancy, and debilitation in aging polynesians
Authors: Crews Douglas E.
Published: June 2005

Between 1950 and 1980 life expectancy among middle‐aged American Samoan men increased 22%; among women it increased 36%. The largest proportional increase were observed after age 65% Men 29%, women 118%. This study examined whether increasing longevity health of older Samoans.

Cause‐specific mortality data were used to calculate multiple decrement life tables for American Samoa by decades for both sexes from 1950 to 1979. Changes in two life table parameters were examined: The probability of dying from, and the remaining life expectancy among persons who would eventually die from, pneumonia/influenza, infections, cancer, or cardiovascular disease (CVD) after birth and after age 45. Pneumonia and infections may indicate frailty or delibitration in older individuals. The probability of dying from a specific cause after a particular age reflects its relative importance for survivors to that age. Residual life expectancy indicates whether older individuals are succumbing at earlier ages or surviving longer the risks of death from specific causes.

Trends in the probability of dying from, and life expectancy among those ultimately dying from, pneumonia and infections did not suggest improved survival of debilitated individuals. Rather, they indicated that older Samoans may have had greater average resistance to pneumonia and infections in later cohorts. How much this was related to improved medical care and availability was not clear from the available data. However, Samoans who died from CVD and cancer did not survive longer than their counterparts had in earlier decades. Thus, there was little opportunity for an increase in debilitation among aging Samoans due to the longer‐term survival of the chronically ill.
DNA fingerprints in physical anthropology
Authors: Weiss Mark L.
Published: June 2005

Hypervariabal minisatellite DNA is a recently described class of nuclear sequences with no known biological function. The minisatellites do form a subtype of restricition fragment length polymorphisms possessing several characteristics particularly intriguing to anthropologists interested in forensics, sociobiology, primate conservation, genetic variability, and molecular evolution.

The sequence occupy at least five dozen loci scattered throughout the human genome. Unlike many polymorphisms, many of the loci have numerous alleles each present at similar frequencies. Such a genetic structure produces exceptionally high levels of heterozygosity and thus provides a tool for the individualization of tissue samples. Additionally, as the alleles are inherited in a Mendelian fashion, the minisatellites provide a superb tool for the identification of paternity (or maternity). Unlike standard blood groups, levels of variability are so high in populations studied to data that parentage can be established by inclusion rather than exclution.

Homologous sequences are shown to exist in a variety of Old World primates. Visualization of genetic fingerprints in nonhumans may allow for determination of paternity where the pool of potential sires is available, while also providing information on levels of genetic variability. These capabilities will ultimately provide for better management of primate colonies. Used in concert with behavioral data, a number of sociobiological will also become more amenable to investigation.
Predicting smallpox epidemics: A statistical analysis of two Finnish populations
Authors: Jorde L. B. , Pitkänen K. J. , Mielke J. H.
Published: June 2005

We analysis data on death due to smallpox in two subdivided Finish populations, the relatively isolated Åland Islands and the mainland parish of Kitee. The data span a 135‐year time period (1750–1885). Logisitic regression and Cox proportional hazards models are used to assess the effects of predictive variables on (1) the probability that an individual subdivision experiences an epidemic and (2) the length of the time period between two epidemics in each subdivision. The predictive variables include population sizes, migration rates, geographic distance, and presence or absence of vaccination. Vaccination was found to be the single most important predicative variable (odds ratio = 6.3 in Åland and 4.4 in Kitee). No other variable were significant predicators in Kitee, while geographic distance was an additional significant predicator in Åland (odds ratio = 1.05). As expected, vaccination and geographic distance were both negatively associated with the probability of epidemic occurrence.

The Mantel regression approach was used to evaluate the effects of independent variables on the probability that any two subdivisions experienced the same epidemic. Between‐subdivision migration rates were the most important predictive variable here, and population size was an important predictor in Åland but not in Kitee. The differing results in these two populations are explained in terms of differences in ecological setting and social organization.
Search for secular trends in calvarial diameters, cranial base height, indices, and capacity in South African Negro crania
Authors: Cameron N. , Tobias P. V. , Fraser W. J. , Nagdee M.
Published: June 2005

Two hundred eighteen South African Negro male crania were arranged in 5‐year birthdate cohorts from 1880–1884, 1890–1894, up to 1930–1934 inclusive and investigated for the presence of a secular trend in their dimensions. Maximum breadth, maximum length, basibregmatic height, cranial base height, and bi‐auricular breadth (BAB) were measured, and cranial index (CI), cranial capacity (CC), and cranial base height index (CBHI) were determined. Cranial length exhibited a significant increase from 1890 to 1930. Cranial base height and CBHI exhibited statistically significant declines over the same period. The absence of secular trends in the other dimensions studied corresponds to previous analyses of the lengths of the femora and tibiae of the same sample. The secular trends in cranial length, cranial base height and its index, and the absence of trends in the other dimensions, are discussed in relation to an apparent decrease in the standard of living occurring in this population after 1900. It is unlikely that the absence of a positive secular trend denotes the attainment of a genetically determined ceiling to the physical size of the subjects represented by these skeletons. It is more likely that the environmental factors believed to produce a positive secular trend were absent in the years from which this sample was drawn and that signs of improvement in these factors, if any, would be so recent that evidence of their effect is not yet available from our cadaver‐derived skeletons.
Dispersal, effective population size, and the genetic structure of the contemporary United States
Authors: Koenig Walter D.
Published: June 2005

I estimate effective population size (Ne) and the inbreeding coefficient (FST) for contemporary United States using Wright's isolation by distance model (Wright: Genetics 28:114–138, 1943) and parent‐offspring dispersal distances obtained from individuals surveyed as part of a study of modern dispersal patterns. Ne is estimated to be minimally 3.61 × 107 and more likely closer to 8.05 × 107; based on these values, FST is between 1.59 × 10−7 and 9.28 × 10−9, depending on whether it is measured relative to the United States population or the world at large. Not all the assumptions of the isolation by distance model are met by modern populations, and thus the results must be interpreted with caution. They suggest, however, that both mobility within and immigration into contemporary United States are great enough to make the probability of inbreeding and random genetic drift negligible factors in producing future evolutionary change. In contrast, gene flow, acting as both a constraint against geographic differentiation within the United States and by introducing new genes via international immigration, is likely to be a dominant evolutionary force in this population.
PC program for analyzing one‐sample longitudinal data sets which satisfy the two‐stage polynomial growth curve model
Authors: Have Thomas R. Ten , Kowalski Charles J. , Schneiderman Emet D.
Published: June 2005

The two‐stage polynomial growth curve model is described and a GAUSS program to perform the associated computations is documented and made available to interested readers. The two‐stage model is similar to that considered by us earlier (Schneiderman and Kowalski: American Journal of Physical Anthropology 67:323–333, 1985; American Journal of Human Biology 1:31–42, 1989), i.e., it is appropriate for the analysis of one‐sample longitudinal data collected at either equal or unequal time intervals. Here, however, the covariance matrix, Σ, instead of being considered arbitrary, is now assumed to have the special structure Σ = W A W′ + σ2I. We show the conditions under which this special structure may be expected to arise and how it may be exploited to produce sharper results in certain situations. The method and the program are illustrated and the results are contrasted to those obtained when Σ is arbitrary. It is suggested that the two‐stage model is more efficient when the same degree polynomial is adequate to model the data in the two situations, but that, should a higher degree be necessary for the two‐stage model, confidence intervals and/or bands may be wider than those corresponding to Σ arbitrary.
Respiratory and hematological adaptations of young and older Aymara men native to 3600M
Authors: Beall C. M. , Strohl K. P. , Gothe B. , Brittenham G. M. , Barragan M. , Vargas E.
Published: June 2005

This paper reports the results of a study designed to test the hypothesis that an inevitable concomitant of aging at high altitudes is chronic mountain sickness resulting from excess erythrocytosis secondary to exaggerated hypoxemia caused by aging processes in the respiratory system. It compares age differences in respiratory system function in oxygenating the blood measured as percent O2 saturation of arterial hemoglobin during wakefulness and sleep and in erythrocytosis measured as hemoglobin concentration in 17 young (22–35 years) and 16 older (47–68 years) rural and urban resident Bolivian Aymara men, healthy lifelong residents of 3,500–4,000 m who were tested at 3,600 m. The results do not support the hypothesis. Older urban men are significantly more hypoxemic during wakefulness and sleep than young urban men, while there are no age differences in the degree of hypoxemia among the rural residents. However, older urban men do not have the higher hemoglobin concentration predicted by the hypothesis. Both urban and rural older men have lower hemoglobin concentration than their young counterparts, a finding not attributable to age differences in nutritional status or testosterone concentration. Despite their relatively low hemoglobin concentration, older men have estimated arterial O2 content in the normal sea level range for young men and in this sense retain the capacity to adapt to high altitude at least through the seventh decade of life.
Secular trends of 22 body dimensions in four racial/cultural groups of American males
Authors: Greiner Thomas M. , Gordon Claire C.
Published: June 2005

Data from the recent U.S. Army Anthropometric Survey provide a unique opportunity to assess long‐term changes in body dimensions within the Army population. This report considers secular trends for 22 body dimensions within four racial/cultural groups: Whites, Blacks, Hispanics, and Asian/Pacific Islanders. Individuals were grouped by year of birth into 5 year cohorts, spanning 1911 to 1970. Rates of secular change were calculated by regressing age‐adjusted dimensions against birth year cohort. Results showed that almost all dimensions sustained statistically significant linear trends, the few exceptions occurring in Asian/Pacific Islanders. The greatest rates of change occurred in dimensions related to soft tissues rather than skeletal dimensions. This pattern is consistent with recent American cultural emphasis on health and physical fitness. The causes of the observed trends, insofar as they have been identified, are related to cultural processes. This suggests that biological forces play a diminished role in shaping the patterns of secular change. Therefore, it may be more appropriate to study secular change in groups that are culturally, rather than biologically, defined.
Criterion methods of body composition analysis for children and adolescents
Authors: Nielsen David H. , Cassady Sandra L. , Janz Kathleen F. , Cook Jennifer S. , Hansen James R. , Wu Ying‐Tai
Published: June 2005

The lack of chemical maturity, subsequent to normal growth and maturation, complicates the assessment of body composition in children. Even though known to overpredict percent body fat (%BF), the use of adult prediction equations is widespread in the pediatric literature. Many sex‐ and age‐specific modified equations have been proposed. This study reports a cross‐validation analysis of selected laboratory‐based criterion methods in an attempt to identify the most appropriate reference which could be used in future validation studies of the more practical field/clinical testing methods. Subjects were 48 (24 boys and 24 girls) peripubertal children evenly distributed according to stage of maturation. Criterion measurements included body density (Db) by hydrostatic weighing, total body water (TBW) by deuterium oxide dilution, and total body mineral content (TMC) by dual energy x‐ray absorptiometry. Five different prediction models were evaluated. Test‐retest reliabilty was high (ICC = .970 to .999). Of the prediction models tested, the four‐component model was considered the most accurate laboratory‐based criterion model since it involves measurement of the primary constituents of fat‐free mass. Based on high r2 (≥.942) values, low standard errors of estimate (SEE = 1.8 %BF males, 1.1 %BF females); and low total prediction errors (TE = 1.9 %BF males, 2.0 %BF females), the Lohman age‐adjusted prediction equation showed the best agreement with the four component model. If multiple testing facilities are unavailable, the Lohman two‐component (Db) model would be the criterion method of choice. © 1993 Wiley‐Liss, Inc.
Physical activity, cardiorespiratory fitness, motor performance, and growth of senegalese pre‐adolescents
Authors: Bénéfice Eric
Published: June 2005

Profiles of usual physical activity, cardiorespiratory fitness, motor performance, and growth were measured regularly for 2 years in 40 rural Senegalese (Wolof) children—20 boys and 20 girls—who were 10 or 11 years of age and clinically healthy at the beginning of the study. Compared to National Center for Health Statistics (NCHS) reference data, the children showed lower weight‐for‐age and height‐for‐age throughout the period of observation; the increments of height from year to year were not remarkable and growth spurts were not observed during the study period. The motor performance (running, jumping, throwing) and spirometer test results were inferior to age‐matched American children. When adjusted for actual weight and height, jumping and throwing results were similar to those of American children, but running results remained inferior. Cardiorespiratory function appeared inferior to American children of the same age, although speed of recovery after exertion demonstrated good cardiorespiratory efficiency. Physical activity, directly observed over 2‐day periods on 4 occasions, corresponded to an average energy expenditure of 1.66 Mets (multiples of basal metabolic rate) (boys) and 1.76 Mets (girls), which are close to the FAO/WHO/UNU values for age. The higher energy expenditure of girls could be explained by their participation in domestic tasks. Both boys and girls spent an average of 42 minutes/day on activities equivalent to energy consumption rates equal or greater than 4.8 Mets. Significant correlations existed between the activity index and cardiorespiratory fitness in boys, and between the activity index and motor performances in girls. Physical aptitudes of sampled children appear compatible with the demands of their social and agricultural tasks. However, it appears that persistent malnutrition may have stunted their growth and motor performances. © 1993 Wiley‐Liss, Inc.
Somatic comparisons of urban and rural Russian boys, ages 6, 9, and 15 years, living in St. Petersburg and surrounding areas
Authors: Spurgeon J. H. , French K. E. , Giese W. K. , Steele M. F. , Utenko V. N. , Bundzen P. V. , Rogozkin V. A.
Published: June 2005

Somatic data were collected during September 1991 on 280 males, ages 6, 9, and 15 years, residing in urban St. Petersburg, Russia, and in rural regions surrounding the city. Comparisons are made between urban and rural groups for measures of body size and form, skinfold thicknesses, body mass index (BMI), and estimated arm muscle area (ARM). The data were analyzed in 2 (urban‐rural) × 3 (age) analyses of variance, with an alpha level of P < 0.05.

Age differences were evident for all measurements. A significant main effect for urban‐rural was found for stature, lower limb height, and calf girth; differences approached significance (P < 0.07) for body weight and sitting height. Urban children were larger than rural children in stature, sitting height, lower limb height, calf girth, and body weight. The interaction was nonsignificant. Urban and rural boys did not differ on measures of body form. Similar means were obtained for the sum of skinfolds, the BMI, and ARM in urban and rural boys. Compared with data collected more than a century ago, present‐day 15‐year‐olds are 22 cm taller. It has often been suggested that living in an urban environment provides greater access to the amenities of life than living in a rural area. Although these amenities are difficult to observe differences do exist and the secular trend continues. © 1994 Wiley‐Liss, Inc.
“ADAM complex” (amniotic deformity, adhesions, mutilations)—A pattern of craniofacial and limb defects
Authors: Keller H. , Neuhauser G. , Durkin‐Stamm M. V. , Kaveggia E. G. , Schaaff A. , Sitzmann F. , Holmes Lewis B.
Published: June 2005

We report eight patients with the craniofacial defects and limb anomalies of the (amniotic deformity, adhesions, mutilations) ADAM complex. Facial abnormalities comprise clefts and distortion and dislocation of craniofacial structures; limbs show various combinations of amputation, secondary syndactyly, and constriction. From previous reports and our cases it is obvious that the clinical picture of the ADAM complex varies enormously; a less severe type combines cleft lip and palate with amputations or amniotic bands. Clinical and experimental data suggest that these malformations are of symptomatic (exogenous) origin. Nosologic differentation from other conditions phenotypically similar but of genetic etiology is important for genetic counseling. Observation of the ADAM complex in two members of a family suggests that genetic factors might operate in some cases.
Scanning electron microscopy of teeth in dominant osteogenesis imperfecta: Support for genetic heterogeneity
Authors: Levin L. Stefan , Brady John M. , Melnick Michael , Optiz John M.
Published: June 2005

Scanning electron microscopic studies were performed on 25 deciduous and permanent teeth from members of 7 kindreds with dominant nonlethal osteogenesis imperfects (OI). Two families had normal teeth on clinical and radiological examination; five familes had blue or brown opalescent teeth with specific radiologic findings. Enamel surfaces and prism organization were normal on all teeth. On fractured surfaces, the dentin tubules of normal teeth from patients with OI were evenly distributed and coursed regularly to the dentin‐enamel junction. Opalescent teeth had few tubules and those present were short, narrow, and tortuous. Dentin calcification fronts of normal teeth were composed of many nodules with regularly spaced openings on their surfaces. Calcification fronts of opalescent teeth were composed of irregularly spaced, small nodules, which varied greatly in size and the nodules lacked tubule openings on their surfaces. The results of this study support the concept that at least two dominant forms of OI exist – one in which all individuals with IO have normal teeth, and the other in which all with OI have blue or brown opalescent teeth with characteristic changes on SEM.
Neurofibromatosis in monozygotic twins: A case report of spontaneous mutation
Authors: Vaughn Arthur J. , Bachman David , Sommer Annemarie , Herrmann Jürgen
Published: June 2005

We report female monozygotic twins with neurofibromatosis. The family history is unremarkable, and careful examination of other family members did not show evidence of the condition. It is concluded that the occurrence in this family is due to a spontaneous mutation arising in one of the parental gametes. This article examines the similarity and difference in manifestations of the disorder in this pair of monozygotic twins.
Clinicopathologic conference: A newborn monozygotic twin with abnormal facial appearance and respiratory insufficiency
Authors: Juberg Richard C. , Stallard Richard , Straughen William J. , Avotri Kosi J. , Washington John W. , Gilbert Enid F.
Published: June 2005

The second of twin males expired of respiratory insufficiency shortly after birth. Unusual facial appearance included prominent forehead, flat nasal bridge, widely separated inner canthi, downward slanting eyes with narrow palpebral fissures, epicanthic folds, small mouth and micrognathia, and apparently low‐set ears; there was also cryptorchidism bilaterally and a simian crease bilaterally. The pregnancy of the 19‐year‐old black woman was not unusual, but polyhydramnios accompanied the delivery of this twin. The twin placentae were diamniotic and monochorionic, one being slightly immature with a two‐vessel cord. We interpreted the karyotype as 46,XY,del(10) (p11–15): The brother and parents were normal.

The dysmorphic features of this and three previously reported cases of 10p‐ do not permit definition of a syndrome.

These are apparently the first monozygous twins presenting discordance of chromosomal structure; previously reported chromosomal discordance in monozygous twins involved numerical abnormality. Considering that the mechanism of monozygous twinning is not understood, we note that the occurrence of both twinning and a structural aberration in one of the twins suggests the possibility of a common cause.
Survival and spectrum of anomalies in the meckel syndrome
Authors: Lowry R. Brian , Hill Robert H. , Tischler Bluma
Published: June 2005

We present two sisters whose malformations (hydrocephalus, cystic dysplasia of the kidneys, polydactyly, and cleft palate) are consistent with a diagnosis of the Meckel syndrome. Diagnosis in case 1 was delayed because of two factors: (1) prolonged survival (28 mo), and (2) the absence of severe craniofacial malformations. These two factors may create difficulties in making this diagnosis and result in uncertainty regarding the medical prognosis of the infant and the genetic prognosis for the parents.
Unilateral partial tibia defect with preaxial polydactyly, general micromelia, and trigonomacrocephaly with a note on “developmental resistance”
Authors: Wiedemann Hans‐Rudolf , Opitz John M.
Published: June 2005

We report a boy with predominantly unilateral severe tibia defect with a high grade of preaxial polydactyly. Family history suggests the possibility of autosomal dominant inheritance with reduced penetrance and quite variable expressivity. The boy's phenotype and other previously reported examples of predominantly unilateral involvement in autosomal dominant and autosomal recessive limb mutations strongly suggest a hypothesis of developmental resistance in the uninvolved parts.
The Börjeson‐Forssman‐Lehmann syndrome
Authors: Robinson Luther K. , Jones Kenneth Lyons , Culler Floyd , Nyhan William L. , Sakati Nadia , Jones Kenneth Lee , Opitz John M.
Published: June 2005

Recently we evaluated a Saudi Arabian family in which a severely affected male and a more mildly affected set of monozygotic (MZ) female twins had manifestations of the Börjeson‐Forssman‐Lehmann syndrome including short stature, hypotonia, mental deficiency, coarse facial appearance with a prominent brow‐ridge, and large ears. We present clinical, radiographic, electroencephalographic, and endocrinologic data to further delineate this condition and set forth the manifestations of two normal, presumably heterozygous, females.
Cataracts and testicular failure in three brothers
Authors: Lubinsky Mark S. , Opitz John M.
Published: June 2005

I report on three brothers with a syndrome of adolescent cataracts and infertility. Follicle‐stimulating hormone (FSH) levels were elevated, suggesting testicular failure. Their parents were second cousins, suggesting autosomal recessive inheritance. Hypogonadism and cataracts occur in several syndromes, but with other findings. This association is probably more than fortuitous, and a common pathogenesis may be involved.
A comparison of three affected‐sib‐pair scoring methods to detect HLA‐linked disease susceptibility genes
Authors: Suarez Brian K. , Van Eerdewegh Paul , Opitz John M.
Published: June 2005

Two widely used affected‐sib‐pair scoring procedures (the Green and Woodrow [1977] procedure, and the method of forming all possible affected‐sib‐pairs) are compared with a new method for their relative efficiency in detecting the presence of an HLA‐linked disease susceptibility gene. Their relative performance is investigated by extensive computer simulations over a large number of disease transmission models. On the average, the new procedure appears to outperform the Green and Woodrow method and the “all‐possible‐pairs” method.
Cytogenetic study in a mentally retarded child with bloom syndrome and acute lymphoblastic leukemia
Authors: Werner‐Favre Christiane , Wyss Marinette , Cabrol Christine , Félix Françoise , Guenin Rita , Laufer Daniel , Engel Eric
Published: June 2005

Bloom syndrome (BS) was diagnosed in a 7‐year‐old boy during hospitalization for acute lymphoblastic leukemia (ALL). The patient had most of the signs of BS along with some atypical manifestations: absence of telangiectases, obesity, and moderate mental retardation. Results of the cytogenetic studies were fully consistent with the diagnosis of BS: the occurrence of quadriradial figures and a very high incidence of sister‐chromatid exchanges (SCE). This child's ALL was of non‐B, non‐T type with the presence, at the time of diagnosis, of a marrow clone including two markers. A Yq– chromosome was detected in about 10% of PHA‐stimulated lymphocytes but neither in bone marrow cells nor in skin fibroblasts. This case is the fifth instance of ALL out of 104 registered cases of BS.
Major gene model for the inheritance of catechol‐o‐methyltransferase activity in five large families
Authors: Siervogel R. M. , Weinshilboum Richard , Wilson A. F. , Elston R. C.
Published: June 2005

Five large families including 1,189 individuals were each ascertained through one proband with essential hypertension. Four of the probands were white and one was black. Erythrocyte catechol‐o‐methyltransferase (COMT) activity was measured in 551 family members. Standard statistical methods were used to investigate sex, age, and family differences in COMT activity. Maximum‐likelihood methods were used to fit mixtures of normal distributions to COMT activity. COMT activity is distinctly bimodal. Pedigree segregation analyses were performed on the untransformed COMT values, their square roots, and natural logarithms in each family. In no family and under none of the three transformations was it possible to reject the hypothesis of Mendelian transmission of a major gene with two alleles in Hardy‐Weinberg equilibrium. In most cases a genetic hypothesis with complete dominance or recessiveness, or a hypothesis of equal transmission probabilities was rejected. While the different transformations had a large effect on the skewness and kurtosis of the overall distribution of the data, they had little effect on the outcome of these segregation analyses. Therefore, this study strongly supports the concept that variation in COMT activity is due in large part to the effects of a major gene.
A previously undescribed autosomal recessive multiple congenital anomalies/mental retardation (MCA/MR) syndrome with fronto‐nasal dysostosis, cleft lip/palate, limb hypoplasia, and postaxial poly‐syndactyly: Acro‐fronto‐facio‐nasal dysostosis syndrome
Authors: Richieri‐Costa A. , Colletto G. M. D. D. , Gollop T. R. , Masiero D. , Opitz John M. , Reynolds James F.
Published: June 2005

We describe two sibs born to a consanguineous couple. Among other clinical findings both have mental retardation, short stature, facial and skeletal abnormalities characterized by hypertelorism, broad notched nasal tip, cleft lip/palate, campto‐brachy‐poly‐syndactyly, fibular hypoplasia, and marked anomalies of foot structures. Facial signs of the reported patients resemble those present in the fronto‐nasal “dysplasia” syndrome; however, the whole clinical picture in the present patients suggests a true MCA/MR syndrome, most likely inherited as an autosomal recessive trait. Climcal and genetic aspects of the present family are discussed.
Noonan phenotype associated with neurofibromatosis
Authors: Allanson J. E. , Hall J. G. , Van Allen M. I. , Opitz John M. , Reynolds James F.
Published: June 2005

We report on four patients with neurofibromatosis and manifestations of Noonan syndrome including short stature, ptosis, “midface hypoplasia,” apparently short webbed neck, learning disabilities, and weakness. No family history of neurofibromatosis was present in any case. Average paternal and maternal age at birth was 37 and 28 years, respectively, suggestive of a new mutation. The presence of a distinct phenotype and hypotonia in these patients with neurofibromatosis is suggestive of a new separate disorder.
DNA polymorphism and the susceptibility to diabetes
Authors: Yokoyama Shozo , Opitz John M. , Reynolds James F.
Published: June 2005

We have studied the relationship between the DNA polymorphisms and the development of diabetes in Caucasians and US black populations. The analyses suggest that disease susceptibility differs in the two populations. In a large population with low frequency of diabetes, DNA fragments detected in the studies of the human insulin gene and HLA‐DR regions seem to have a minor role in the development of diabetes. However, the currently available data also show that alleles with insertion in the 5′‐flanking region of the insulin gene in the US black populations induce noninsulin‐dependent diabetes fivefold more often than in white populations. To draw a more reliable conclusion, further DNA polymorphism surveys in different ethnic groups need to be conducted.
An X‐linked recessive basal ganglia disorder with mental retardation
Authors: Laxova Renata , Brown Eleanor S. , Hogan Kirk , Hecox Kurt , Opitz John M. , Reynolds James F.
Published: June 2005

We report a previously apparently undescribed, X‐linked recessive basal ganglia disorder segregating in three generations of one family. The affected patients were variably mentally retarded, although some showed strengths in oral reading and memory. Most affected males had frontal bossing and increased head circumference with large calvaria in relation to facial bones. Their height and weight did not differ from that of other relatives; testicular size was average, chromosomes were normal, and results of laboratory investigations for known metabolic disorders were normal.

All patients examined had neurological impairment, including persistent frontal lobe reflexes, cogwheel rigidity, postural changes, and Parkinsonian‐type tremors. Some had strabismus; several had seizures.

Although carriers of the condition were not consistently abnormal, two had suggestive signs. No definitive indication of the disorder was documented in infancy in any affected male, and it is possible that this could be due to lack of careful prospective clinical evaluation rather than to the absence of symptoms in early life.
Reduction of fragile X expression in blood after cryopreservation
Authors: Shimanuki Keiko , Lin Ming S. , Wilson Miriam G. , Opitz John M. , Reynolds James F.
Published: June 2005

Frequency of fragile X expression was investigated before and after cryopreservation (−196°C) in the blood of 4 affected males, 3 fragile X carriers and in a fibroblast cell strain from a fragile X male fetus. The results indicate that there is a significant decrease (p < 0.05) in the frequency of the fragile X expression in lymphocytes after cryopreservation, as compared to the fresh blood, but not in fibroblasts. This suggests that cryopreserved blood specimens may not be suitable for fragile X analysis.
A de novo translocation, 14q21q, with a microchromosome—14p21p
Authors: Abeliovich Dvorah , Katz Miriam , Karplus Michael , Carmi Rivka , Opitz John M. , Reynolds James F.
Published: June 2005

A familial translocation, t(14;21)(14p21p;14q21q), in a mother and her child is described. The translocation was ascertained through the birth of a Down syndrome baby with the chromosome constitution 47,XX,‐14, +der 14, +der 21,t(14;21)(q11; p12) mat. A 1:3 segregation in the maternal meiosis is suggested for the evolution of the unbalanced chromosome state. The main translocated chromosome 14q21q mimics the product of a Robertsonian translocation, while the 14p21p chromosome has the morphology of a satellited microchromosome. The cytogenetic nature of this translocation is discussed.
An autosomal dominant syndrome of short stature with mesomelic shortness of limbs, abnormal carpal and tarsal bones, hypoplastic middle phalanges, and bipartite calcanei
Authors: Osebold William R. , Lester Edward L. , Remondini David J. , Spranger Jürgen W. , Opitz John M. , Reynolds James F.
Published: June 2005

This paper describes seven persons in a family affected with an autosomal dominant syndrome of short stature with mesomelic shortness of upper and lower limbs, abnormal carpal and tarsal bones, hypoplastic or absent middle phalanges of hands and feet, and delayed coalescence of bipartite calcanei. All affected relatives are of normal intelligence, are free of eye problems, and have a normal skull, spine, shoulders, and hips. The digits of the hands and feet are short, broad, and angulated. The hypoplastic or absent middle phalanges effectively result in one interphalangeal joint for each digit, with decreased mobility. The bones of the carpus and tarsus coalesce with increasing age. None of the previously described syndromes or brachydactylies encompasses the findings noted in this kindred.
High dose folic acid treatment of fragile (X) males
Authors: Brown W. Ted , Cohen Ira L. , Fisch Gene S. , Wolf‐Schein Enid G. , Jenkins Valerie A. , Malik Mazhar N. , Jenkins Edmund C. , Opitz John M. , Reynolds James F.
Published: June 2005

We conducted an experimental trial of high‐dose folic acid given to five males, ages 8 to 26 years, with the fra(X) syndrome. In this double blind study, each subject received 250 mg per day of folic acid for 3 months, followed by placebo for 3 months, and folic acid again for an additional three months. Based on IQ tests, behavior ratings, the Austistic Descriptors Checklist, and parental ratings, there was little evidence to suggest any positive effects seen during the administration of high‐dose folic acid. Therefore, this study has provided little support for a hypothesis of benefit of high‐dose folic acid in the treatment of the fra(X) syndrome.
Mouse chromosome fragility
Authors: Sanz Maureen M. , Jenkins Edmund C. , Brown W. Ted , Davisson Muriel T. , Kevin Monica J. , Roderick Thomas H. , Silverman Wayne P. , Wisniewski Henryk M. , Opitz John M. , Reynolds James F.
Published: June 2005

When cultures of fibroblast‐like cells from inbred mouse strains RBC/Dn and AEJ/GnRk were exposed to 5‐fluoro‐deoxyuridine (FUdR), non‐random strain‐specific distributions of chromosome gaps, breaks and exchanges were observed. Throughout the genomes there appeared to be specific sites at which lesions occurred preferentially. Two strain‐specific fragile sites were identified in strain RBC/Dn at G‐band 15A2, and at G‐band 19B in strain AEJ/GnRk. Constitutive fragile sites at G‐bands 12A2 and 18A2 were identified in both strains. A strain‐specific marker at G‐band 9B was found in strain AEJ/GnRk. The fragile sites reported here provide an animal model for the study of chromosome fragility as well as polymorphic markers for linkage studies.
Sex chromosome aneuploidy in fragile X carriers
Authors: Nielsen Karen Brøndum , Opitz John M. , Reynolds James F.
Published: June 2005

Not few reports of sex chromosome aneuploidy in association with the fragile site at Xq28 have appeared, suggesting other factors than pure coincidence. In the present report lymphocyte cultures from 23 obligate and 45 potential carriers have been examined cytogenetically. As expected, an increase in sex chromosome aneuploidy with increasing age was observed. However, it seemed that the increase of hyperdiploid cells was far in excess of the expected, and a difference between obligate and potentialcarriers was apparently also present. Hence, a disposition to non‐disjunction of the fragile X chromosome is suggested.
Evaluation of carrier detection rates for duchenne and becker muscular dystrophies using serum creatine‐kinase(CK) and pyruvate‐kinase(PK) through discriminant analysis
Authors: Zatz Mayana , Otto Paulo A. , Reynolds James F.
Published: June 2005

Serum pyruvate‐kinase (PK) and creatine‐kinase (CK) determinations have been carried out in a sample of 100 obligate carriers for the Duchenne muscular dystrophy (DMD) gene, 23 obligate carriers for the Becker muscular dystrophy (BMD) gene, and 50 normal adult control women. Blood samples were collected from all subjects three times on three independent occasions and the means of these three determinations were considered for both PK and CK activities in the statistical analysis.

Discriminant analysis has shown that, in the group of carriers for the DMD gene, the estimated misclassification frequencies (M.F.) using either serum CK, PK, or both enzymes were: 26.5% for CK alone, 19.5% for PK alone, and 19% for both enzymes.

In the group of carriers for the BMD gene, the estimated proportions of M.F. were: 31.7% for CK alone, 23.8% for PK alone, and 20.4% for both enzymes.

It is concluded that, although a proportion of carries still remains undetected, the use of serum PK determinations enhances the capability of detecting carriers of both DMD and BMD mainly when compared with serum CK alone.
Alopecia, macular degeneration, and growth retardation: A new syndrome?
Authors: Küster Wolfgang , Majewski Frank , Hammerstein Wolfgang , Fraser F. Clarke , Preus Marilyn
Published: June 2005

A syndrome with growth retardation, repeated hair loss, and ring‐shaped degeneration of the retinal pigmentary epithelium is described. Similarities to a known syndrome could not be found.
Boy with a chromosome del (3)(q12q23) and Blepharophimosis syndrome
Authors: Fujita Hiroko , Meng Jianguo , Kawamura Miyako , Tozuka Noriko , Ishii Fumiyo , Tanaka Naoko
Published: June 2005

We report on a 6‐year‐old boy with de novo 46, XY, del(3)(q12q23) and bilateral blepharo‐phimosis, ptosis, epicanthus inversus, in addition to multiple other anomalies. Since 4 previously reported cases of interstitial deletion of 3q involving 3q23 band are clinically similar, we propose this blepharophimosis sequence due to 3q23 deletion as a further “contiguous gene syndrome”.
New diagnostic method for Pallister‐Killian syndrome: Detection of i(12p) in interphase nuclei of buccal mucosa by fluorscence in situ hybridization
Authors: Ohashi Hirofumi , Ishikiriyama Satoshi , Fukushima Yoshimitsu
Published: June 2005

Detection of the supernumerary isochromosome 12p [i(12p)] was performed on buccal smear preparations from 2 patients with Pallister‐Killian syndrome, 21 (patient 1) and 15 months (patient 2) old, by interphase fluorescence in situ hybridization (FISH) using a chromosome 12‐specific alpha satellite probe. Isochromosome 12p‐positive cells were identified by observing 3 signals over the nucleus, while diploid cells had 2 signals. The proportion of i(12p)‐positive cells thus identified was high in the epithlial cells of buccal mucosa at 68 and 53% from patients 1 and 2, respectively. Further, the frequencies of i(12p)‐positive cells were also studied in PHA‐stimulated peripheral lymphocytes, cultured skin fibroblasts (both patients), and directly harvested T and B‐cells (patient 1). Of these tissues, buccal mucosa showed the highest proportion of i(12p)‐positive cells. These findings indicate that epithelial cells of buccal mucosa are likely to retain i(12p)‐positive cells. Detection of i(12p) using direct buccal smear preparations by interphase FISH is a rapid, effective and non‐invasive method for confirming the diagnosis of the Pallister‐Killian syndrome. © 1993 Wiley‐Liss, Inc.
Inverted insertion of chromosome 7q and ectrodactyly
Authors: Naritomi Kenji , Izumikawa Yoshinori , Tohma Takaya , Hirayama Kiyotake
Published: June 2005

An inverted insertion of a segment 7q22–q34 into 3q21 was found in a mentally normal male infant with ectrodactyly of a hand and the feet. A putative gene for ectrodactyly seems to be assigned at 7q22. © 1993 Wiley‐Liss, Inc.
Is visual field reduction a component manifestation of osteopathia striata with cranial sclerosis?
Authors: Clementi Maurizio , Bellato Silvano , Rossetti Alberto , Mammi Isabella , Tenconi Romano
Published: June 2005

A girl with fully expressed osteopathia striata with cranial sclerosis (OS) was also found to have a contraction of the two visual fields, a sign never previously described in OS syndrome. We suggest that the visual field defect is a component manifestation of OS syndrome, whose pathogenesis is represented by distortion of the optic canal and narrowing of the optic foramina. © 1993 Wiley‐Liss, Inc.
Chorioretinal dysplasia‐microcephaly‐mental retardation syndrome: Report of an American family
Authors: Sadler Laurie S. , Robinson Luther K.
Published: June 2005

Recently we evaluated an American family with the chorioretinal dysplasia‐microcephaly‐mental retardation syndrome (CDMMS, McKusick #156590). The male‐to‐male transmission observed for the first time in the family of this report confirms autosomal dominant inheritance. Analysis of our cases and review of the literature illustrates the variable expressivity of this disorder and demonstrates the need for careful ophthalmologic evaluation of at‐risk relatives in order to provide accurate recurrence risks. © 1993 Wiley‐Liss, Inc.
Cerebro‐reno‐digital syndrome in two sibs
Authors: Piantanida Mauro , Tiberti Alessandra , Plebani Alessandro , Martelli Paola , Danesino Cesare
Published: June 2005

We describe two sibs with mental retardation, facial anomalies, polydactyly, cerebellar vermis agenesis, and either meningocele or renal cystic dysplasia. The patients' condition appears to belong to a group of cerebro‐reno‐digital syndromes. Autosomal recessive inheritance is suggested. © 1993 Wiley‐Liss, Inc.
Cytogenetic evidence that the Saethre‐Chotzen gene maps to 7p21.2
Authors: Reardon W. , McManus S. P. , Summers D. , Winter R. M.
Published: June 2005

Evidence for the location of the Saethre‐Chotzen acrocephalosyndactyly mutation on 7p21–22 is based on genetic linkage studies in families segregating for this autosomal dominant disorder. Linkage studies were guided by several reports of chromosome deletions in this region giving rise to craniosynostosis and some other manifestations of Saethre‐Chotzen syndrome. We report on a family where a father and daughter carry an apparently balanced t(7;10)(p21.2;q21.2) translocation (de novo in the father) and have the Saethre‐Chotzen syndrome. These observations support the localization of the Saethre‐Chotzen gene to 7p21.2. © 1993 Wiley‐Liss, Inc.
Investigation of thermoregulatory characteristics in patients with Prader‐Willi syndrome
Authors: Williams Marc S. , Rooney Brenda L. , Williams Janet , Josephson Kevin , Pauli Richard
Published: June 2005

A survey instrument is used to assess temperature regulation characteristics in children with Prader‐Willi syndrome (PWS) compared to 3 control groups: sibs of PWS patients (SIB), neurodevelopmentally handicapped children (ND), and age and gender matched well children (WC). Significant differences were found between PWS patients, SIB controls, and WC controls in the prevalence of febrile convulsions, fever‐associated symptoms, and temperature less than 94°F. No differences were noted in any variable between the PWS patients and the ND controls, suggesting that these abnormalities are not unique to PWS, but can occur in any neurodevelopmentally handicapped individual, further suggesting these do not necessarily reflect syndromespecific hypothalamic abnormalities. © 1994 Wiley‐Liss, Inc.
Three unrelated cases of paracentric inversions of 1p in individuals with abnormal phenotypes
Authors: Estop A. M. , Bansal V. , Lin A. , Levinson F. , Karlin S. M. , Surti U. , Wenger S. L. , Steele M. W.
Published: June 2005

Paracentric inversions, involving a rearrangement within one chromosome arm, are rare. Although carriers of balanced paracentric inversions should theoretically not be at risk for abnormal offspring, such cases have been reported. We report on 2 unrelated cases of inherited paracentric inversions of 1p with breakpoints at p32 and p36.1 and p32.3 and p36.22 in individuals with abnormal phenotypes. Another case of 2 abnormal monozygotic twins with a de novo paracentric inversion of 1p with breakpoints at p22 and p34 is presented as well. © 1994 Wiley‐Liss, Inc.
Epidemiology of limb‐body wall complex in Japan
Authors: Kurosawa Kenji , Imaizumi Kiyoshi , Masuno Mitsuo , Kuroki Yoshikazu
Published: June 2005

Limb‐body wall complex is a malformation of body and limbs with craniofacial defects. We describe here the epidemiology of this complex using the population‐based registry data in the Kanagawa Birth Defects Monitoring Program during the period 1982–1991. Eleven infants (11/428,599 births) with the complex were ascertained in the study. The incidence and spectrum of the defects observed in our cases were similar to those of other studies. The parental ages in the study group were not significantly different from those in the general population. No teratogenic agents and factors were identified in the present study. Most cases were diagnosed prenatally. © 1994 Wiley‐Liss, Inc.