bluuebunny/crossref_metadata_2025 huggingface dataset:
Prevalence of hepatitis B virus markers in several institutions for the mentally handicapped in the autonomous community of Madrid
Authors: Carrascosa Diana , De La Vega Ramírez Ma , Casado Angela , Torre Ma Roserio Je La , Lópezfernández Ma Encarnación , Sáez Julia
Published: June 2005

In order to determine the prevalence of hepatitis B virus (HBV) markers, 400 patients were studied: 134 residents of an institution (RI) for the mentally retarded and 266 under non‐residential care (NRC). In the residential institutions, all markers were absent in 69 (65.7%) of 105 patients with Down syndrome and 20 (69.0%) of 29 clients without Down syndrome. In the NRC clients, 167 (85.6%) of 195 patients with Down syndrome and 65 (91.5%) of 71 clients with other mental defects (psychologically and physically handicapped, autism) had negative tests for HBV markers. The prevalence of the hepatitis B surface antigen (HBsAg) was higher in institutionalized mentally retarded (RI) and older patients (21+ years). Examination of 195 Down patients revealed a higher frequency (1.4 times) of surface antigen carriers as strictly matched non‐Down syndrome cases (point prevalences 14.2% and 10.3%, respectively). The higher prevalence in affected cases appears to be primarily associated with a longer persistence of antigenemia. Results related to the sex of the patients were less clear. Neither affected nor non‐affected patients showed significant differences in prevalence among males and females. © 1995 Wiley‐Liss, Inc.
Conservative scoring and exclusion of the phenomenon of interest in linear enamel hypoplasia studies
Authors: Berti P. R. , Mahaney M. C.
Published: June 2005

Conservative criteria are generally employed to select only “sufficiently large” linear enamel defects to be scored as linear enamel hypopasias (LEHs), a practice that excludes enamel defects below arbitrarily selected size thresholds. A question arising is, are such practices likely to exclude small, yet authentic(i.e., physiological stress induced) LEH? The permanent maxillary and mandibular first and second incisors, canines, and first premolars on dental casts (n = 532) form a contemporary Canadian farming commune were scored for LEH, with linear defects being categorized by both breadth and width to yeild the scores A (smallest), B, C, and D (largest). Relative frequencies were calculated as the percent prevalence of each score per tooth divided by the highest percent prevalence exhibited by any tooth in the same dental arch. The intertooth patters of the relative frequencies were tested for concordance. Secondly, assuming that different researchers employ different scoring criteria, tests for concordance of mean n of LEHs/tooth were conducted using data from four different reports as a second test for intertooth concordance of various‐sized defects. Substantial concordance was obseved between A, B, C, and D (Kandall's coefficient of concordance, W = .65, P <.005) and in the interstudy comparison (W = .67, P <.01). Because it is unlikely that defects of varying sizes would have similar intertooth distributions if they did not have similar etiologies, it may be inferred that all of the defects observed, even the very small defects, A, are variants of the same phenomenon, LEH. © 1995 Wiley‐Liss, Inc.
Seasonality and child morbidity in rural Bangladesh
Authors: Rousham E. K. , Mascie‐Taylor C. G. N.
Published: June 2005

This study examined seasonal variation in the impact of infection on child nutritional status. Maternal reports of child illness were examined in relation to monthly changes in weight, weight‐for‐age, and midupper arm circumference (MUAC) of children aged 2–6 years of age. The greatest deterioration in short‐term nutritional status was associated with episodes of fever, followed by episodes of diarrhea and respiratory infections. The monsoon season was associated with the highest prevalence of fever, respiratory infection, and diarrheal diseases. Irrespective of the prevalence of infection, the relationship between infection and nutritional status varied across seasons. Weight loss and decreases in MUAC associated with infection in the dry and monsoon seasons were statistically significantly greater than those in the winter months. The observed seasonal variation in morbidity is an important consideration for studies of infection and malnutrition in children. © 1995 Wiley‐Liss, Inc.
Sex ratio of livebirths in Micronesia
Authors: Underwood Jane H.
Published: June 2005

A growing body of data extends Hunt's earlier findings from Yap to suggest a characteristic Micronesian pattern of highly masculinized secondary sex ratios. Using materials from an extensive family record register for pre–World War II Guam, it is now possible to examine parental age and birth order effects in a Micronesian population in which the overall sex ratio of livebirths to 3,406 formally wed and fertile couples was 109.6. In contrast to the results of most studies among Euroamerican groups, secondary sex ratios on Guam were significantly higher for higher order births and for paternal age at last recorded birth to older couples. This apparent anomaly is resolved, however, and James' hypothesis of human sex ratio determination is supported when universalistic assumptions of declinin coital frequencies with spousal age and marital duration are replaced by more appropriate and population‐specific ethnodemographic information. © 1995 Wiley‐Liss, Inc.
Secular changes in the stature and weight of Taiwanese children, 1964–1988
Authors: Huang Yi‐Ching , Malina Robert M.
Published: June 2005

Secular changes in mean statures and body weights of nationally representative samples of school children from Taiwan, republic of china, between 1964 and 1988 are described. The trend is for continuous increase in both measures from 1964 through 1988, and the more recent data suggest that the positive secular trend is continuing more so in males than in females. Estimated ages at peak height velocity (PHV) and peak weight velocity (PWV), based on the Preece–Baines model I applied to the cross‐sectional means, decline linearly in both sexes at about 0.04 yr/yr and 0.05 yr/yr, respectively. Chinese children in Taiwan, Republic of China, are, on average, heavier than Chinese children from the People's Republic of china, but differences in mean statures are negligible. Chinese children in Taiwan mature about 0.5 to 0.7 year earlier (estimated ages at PHV) than those in the People's Republic of China. Estimated rates of secular change in stature tend to be slightly greater in chinese children from the People's Republic of China between the 1950s and 1985 than in Chinese children from Taiwan, Republic of China, between 1964 and 1988. In contrast, estimated rates of secular change in body weight are greater in children from Taiwan than in children from the People's Republic of China. © 1995 Wiley‐Liss, Inc.
Stature and stature distribution in recent West German and historic samples of Italian and Dutch conscripts
Authors: Hermanussen Michael , Burmeister Jens , Burkhardt Volker
Published: June 2005

Based on the standard for the natural distribution of stature obtained from 11,851,168 West German conscripts (born in 1938–1971), stature and stature distribution were investigated in historic samples of Italian (born 1854–1963) and Dutch (drafts of 1863–1970) conscripts. Both stature and stature distribution in the historic Italian and Dutch samples showed a variety of characteristic deviations from the natural stature distribution of the modern populations, which strongly suggest that there are at least two developmental periods that are sensitive to socioeconomic events with regard to final stature. Environmental disasters during pregnancy and the first year of life lead to a ubiquitous reduction of mean stature in the total cohort affected. This is obvious in Italians born in 1945, who are 3.7 mm shorter than those born in 1944, and 7.9 mm shorter than those born in 1946. An even stronger suppression of final stature by more than 12 mm is obvious in Italians born in 1899 and 1900. Stature distribution, however, is influenced by environmental factors during adolescence. Particularly small persons become numerous during periods of war and economic depression. This is evident in the 19th century Dutch and Italian samples, and during the early 1920s. Changes in developmental tempo seem unlikely to cause these effects. © 1995 Wiley‐Liss, Inc.
Growth in stature in early, average, and late maturing children of the Caracas mixed‐longitudinal study
Authors: Lopez‐Blanco Mercedes , Izaguirre‐Espinoza Isbelia , Macias‐Tomei Coromoto , Saab‐Verardy Leonardo
Published: June 2005

A sample of 113 boys and 101 girls of the Caracas Mixed‐Longitudinal Study was grouped into early, average, and late maturers according to selected cut‐off points of the 10th and 90th centiles for age at peak height velocity (APHV). Individual curves were fitted with the cubic spline function, in which height velocity corresponds to the first derivative. Age at menarche (AM) was estimated by recall in a longitudinal context. Differences between groups were assessed with F and t‐tests. Girls were approximately 2 years earlier than boys in APHV and thus significantly shorter; their estimated PHV was also significantly lower. APHV in boys and girls occurred 0.4–0.6 years earlier than in European children, which is consistent with a faster tempo of growth of Venezuelan youth. The three maturity groups differed significantly in timing, stature, and AM. Early maturers were taller than average maturers, and the latter were taller than late maturers with maximal differences between the extreme groups at ages 13–14 in boys and 11–12 in girls. Early maturers grew at a faster rate than average maturers, and the latter grew at a faster rate than late maturers up to 13 years in boys and 10–11 years in girls. Despite difficulties encountered in the analysis of mixed‐linked longitudinal data, meaningful growth differences were found between maturity groups of urban Venezuelan children. © 1995 Wiley‐Liss, Inc.
Dissociation between skinfold thickness changes and growth of adipose tissue volume in children and youth
Authors: Blade Linda , Ward Richard , Martin Alan
Published: June 2005

The purpose of this investigation was to determine whether there is a divergence in the relationship between skinfold thickness and an adipose tissue volume (ATV) corresponding to the same segment of the body during growth. Anthropometric data from the cross‐sectional Coquitlam Growth Study (COGRO) were used to estimate the ATV of the arm, calf, thigh, and trunk in 6‐ to 18 years old girls (n = 458) and boys (n = 487). Assuring a cylindrical shape for body segments, ATV was calculated by subtracting an inner cylinder of muscle, bone, and residual from the total cylindrical volume of a given segment. Combined graphical analysis of both skinfold growth and growth of ATV reveals that a decrease in skinfold can occur without a concomitant decrease in its corresponding regional ATV. This happens more dramatically in boys than in girls, and in the limbs than in the trunk. This suggests that exaggerated growth in length and/or muscle girth cause a “spreading” and “thinning” of the adipose tissue layer, which does not necessarily reflect fat loss. The meaning of changes in skinfold thicknesses during growth thus needs evaluation. © 1995 Wiley‐Liss, Inc.
Subsistence patterns and blood pressure variation in two rural Caboclo communities of Marajó Island, Pará, Brazil
Authors: Silva Hilton P. , Crews Douglas E. , Neves Walter A.
Published: June 2005

Blood pressure (BP) increases with age in westernized societies, is higher in men, and is correlated with the body mass index (BMI). Traditional societies present more variable patterns of BP. In 1991, BP and anthropometric data from two “Caboclo” (rural populations of mixed ancestry) groups from Marajó Island, Brazil, were collected: The Paricatuba group, (N = 20;12 women), with a subsistence base of fishing, collection of palm fruits, and traditional gardening; and the Praia Grande group (N = 26; 14 women), where subsistence is based on mechanized agriculture. In Paricatuba, mean BP is 109/74 mmHg in men and 101/70 mmHg in women. There are no significant differences between BP of men and women, and systolic blood pressure (SBP) increases with age. Both SBP and diastolic blood pressure (DBP) are associated with weight, but only DBP is associated with the BMI, while SBP is associated with stature. In Praia Grande, mean BP is 120/76 mmHg in men and 118/70 mmHg in women, with no significant differences between the sexes. In Praia Grande, SBP is higher than in Paricatuba, and both SBP and DBP are associated with age. Compared with urban groups, both Caboclo samples have low BP. Still, differences in BP and body habitus between the two groups support a hypothesis that degree of westernization influences mean levels of BP in rural Amazonian populations. Further, the results also may be interpreted as suggesting that associations of sex, age, and BMI with BP, commonly reported in urban samples, are a byproduct of westernization rather than a result of genetic factors. © 1995 Wiley‐Liss, Inc.
Fourteen year changes in adiposity and blood pressure in American Samoan adults
Authors: Gershater Elize , McGarvey Stephen T.
Published: June 2005

A cohort of 194 American Samoan adults with no history of antihypertensive treatment was seen at two times, 14 years apart, 1976 and 1990. Anthropometric and blood pressure (BP) data in 1976 and 1990, and the chages, were described and correlated within age (<40 and ⩾40 years) and sex groups. These Samoans are characterized by massive adiposity and body mass, as well as high prevalence and incidence of overweight and hypertension. The younger group had a notable mean increase in the body mass index (BMI) and fatness over 14 years, whereas only younger females had BP increases. Among older females there were small negative mean chages, and in older males small positive mean changes in BMI and skinfolds. In both older males and females, systolic BP increased markedly with little mean change in diastolic BP. There was substantial heterogeneity around the mean chages in all sex‐age groups. Adiposity in 1976, assessed by the BMI and skinfolds, was positively related to follow‐up BP in all groups except older males. Chages in adiposity were positively related to chages in BP in all groups. Multiple regression analyses showed that change in BMI and age were positively related to 1990 BP after adjustment for baseline BP. © 1995 Wiley‐Liss, Inc.
A comparison of physical fitness between Igloolik inuit and Volochanka nGanasan
Authors: Rode Andris , Shephard Roy J.
Published: June 2005

Physical characteristics, muscle strength, and predicted aerobic power were compared in two circumpolar populations aged 20–49 years at different stages in acculturation to a “modern” sedentary life‐style: the Inuit of Igloolik (110 males, 80 females tested in 1989–90) and the nGanasan of Volochanka (29 males, 25 females tested in 1992–3). Both populations show short stature but normal body mass. Skinfold thicknesses (average of triceps, subscapular, and suprailiac) of the male Inuit (mean 10–11 mm, rising with age to 15 mm) are now much greater than in previous surveys, reflecting adoption of a mechanized, sedentary life‐style. Recent estimates from Siberia suggest continuing substantial daily energy expenditures by the men but not the women of this region, and averaged values for the three skinfolds in the nGanasan males (mean 7–8 mm) are still low. In women, both Inuit (mean skinfolds 15 mm, rising to 29 mm with age) and nGanasan (mean 19 mm, rising to 25 mm) are now relatively obese. Compared to the nGanasan, male Inuit have greater handgrip force (probably due to snowmobile operation), but poorer knee extension strength (probably because they now do little walking through snow). In contrast, older nGanasan women have less knee extension strength than the Inuit (probably because the latter still carry babies on their backs). The aerobic power of both Inuit and nGanasan (mean of 48, declining with age to 38–40ml/[kg.min] in males, mean of 38–45 declining with age to 33–37 ml/[kg.min] in females) still corresponds to that of a moderately active urban population. © 1995 Wiley‐Liss, Inc.
Effect of drink pattern and solar radiation on thermoregulation and fluid balance during exercise in chronically heat acclimatized children
Authors: Santana José R. Rodríguez , Rivera‐Brown Anita M. , Frontera Walter R. , Rivera Miguel A. , Mayol Pedro M. , Bar‐Or Oded
Published: June 2005

The purposes of this study were to examine the thermoregulatory and body fluid balance responses in chronically heat acclimatized children, i.e., indigenous to a tropical climate, during exercise in four outdoor conditions and the effects of dehydration on their thermoregulatory response. Nine children (age = 13.3 ± 1.9 yr, VO2max = 45.5 ± 9.2 ml · kg−1 · min−1) cycled at 60% VO2max each under four conditions: sun exposure voluntary drinking (SuVD), sun exposure forced drinking (SuFD), shaded voluntary drinking (ShVD), and shaded forced drinking (ShFD). Exercise sessions consisted of four 20‐min exercise bouts alternating with 25‐min rest periods. Globe temperature and the WBGT index were higher during SuVD and SuFD compared to ShVD and ShFD (P < 0.05). The change in rectal temperature, metabolic heat production, and heat storage did not differ among the conditions. Total water intake (% IBW) was higher during SuFD (4.1 ± 0.01) and ShFD (3.7 ± 0.1) compared to SuVD (2.1 ± 0.1) and ShVD (1.0 ± 0.1) and during SuVD compared to ShVD (P < 0.05). Sweating rate (L · hr−1) was higher during SuFD (0.7 ± 0.1) and ShFD (0.6 ± 0.1) compared to SuVD (0.5 ± 0.1) and ShVD (0.4 ± 0.1) (P < 0.05). Total fluid loss did not differ among conditions (SuVD = 1.7 ± 0.4; SuFD = 1.5 ± 0.4; ShVD = 2.1 ± 0.2; ShFD = 1.3 ± 0.3). Results indicate that when exercising in a tropical climate, chronically heat acclimatized children demonstrate mild voluntary dehydration and adequate heat dissipation. © 1995 Wiley‐Liss, Inc.
Comparative study of physiological and anthropometric characteristics of high and low productivity workers in northern West Bengal, India
Authors: Roy Subrata K.
Published: June 2005

Lung functiion, selected hematological traits, blood pressures, and anthropometric dimensions were measured on adult Oraon tea garden laborers of both sexes from two tea gardens of Jaipaiguri district, northern West Bengal, India. The laborers were classified into two groups on the basis of work output or productivity, measured in terms of the quantity of green leaves plucked per day. The groups were similar in income, dietary pattern, and self‐reported morbidity. Relationships between the measured variables and productivity were evaluated. The results show several significant relationships, but do not conclusively demonstrate that the independent variables under study have any effects on work output. © 1995 Wiley‐Liss, Inc.
Age at menarche: Relationships to socioeconomic status, growth rate in stature and weight, and skeletal and sexual maturation
Authors: Onat Teoman , Ertem Bilsel
Published: June 2005

A sample of 114 girls from low‐middle and highest socioeconomic levels of Istanbul were followed at 6‐month intervals for 7–9 years during adolescence. Results pertaining to age of menarche and its relationship to growth and maturation are presented. No significant difference was found for the occurrence of menarche in relation to season. The age of menarche was 6.6 months earlier in daughters compared to their mothers, but the variation between mothers and daughters was great. In the lower socioeconimic class, age of menarche was significantly later, 12.5 years in the high and 13.4 years in the lower class. Later menarche in the lower class was related to lower rates of growth in stature and weight, and of skeletal and sexual maturation. There was no significant correlation between age at menarche and stature and weight attained at menarche. Those with a faster rate of growth reached menarche early and the height velocity continued to be faster. The median stages of secondary sexual characteristics at menarche were 4 for breast and pubic hair, and 3 for axillary hair. The stage of development at menarche did not differ significantly with age of menarche and social class. Menarche occurred 2.4 years after the appearance of pubic hair, 2.0 years after the appearance of the breast bud, and 1.4 years after the appearance of axillary hair, and the ages at which the secondary sexual characters appeared correlated significantly with the age of menarche. Skeletal age at menarche was 13.0 ± 0.69 years. Age of menarche correlated best with the age at which fusion of the second and first distal phalanges occurred. The percentage of adult height attained at menarche correlated significantly with the age of menarche. Regression equations and standard errors are presented to aid in the prediction of the age at menarche from other variables related to menarche.
Inverted tandem (“mirror”) duplications in human chromosomes: Inv dup 8p, 4q, 22q
Authors: Taylor Kenneth M. , Francke Uta , Brown Michael G. , George Donna L. , Kaufhold Marilyn , Opitz J. M.
Published: June 2005

We have studied 4 patients with inverted tandem duplications of parts of chromosomes, a hitherto rarely identified from of a structural rearrangement involving a single chromosome in man. In Patients 1 and 2, the duplication involved parts of the short arm of chromosome 8 (regions 8p 12→8p23 and 8p21→8p23, respectively). Both patients manifested certain characteristics of the mosaic trisomy 8 syndrome. Elevated levels of glutathione reductase (GSR) in their erythrocytes supported the interpretation of a partial duplication of chromosome 8 and indicated a regional localization for the GSR gene locus. In Patient 3, the distal half of the long arm of chromosome 4 was duplicated (region4q26→4q35). Clinical evidence supported this interpretation, as Patient 3 resembled phenotypically the 13 reported cases with duplication of the distal 4q. The cytogenetic findings in Patient 4 suggested a possibly inverted duplication of 22q. The clinical correlation was less convincing due to the lack of a well‐defined phenotype for trisomy 22.

These chromosome aberrations had occurred de novo in all 4 cases. Although they involved different chromosomal regions, they might well have arisen by the same mechanism. Possible modes of origin that are discussed in detail include unequal exchange between homologous chromosomes, between chromatids of 1 chromosome or between strands of 1 DNA duplex.
Familial occurrence of the Wiedemann‐Beckwith syndrome and persistent fontanel
Authors: Sommer Annemarie , Cutler Edward A. , Cohen Benjamin L. , Harper Dwain , Backes Carl , Herrmann J.
Published: June 2005

We describe a family in which 3 sisters gave birth to 8 infants with the Wiedemann‐ Beckwith syndrome. The clinical manifestations in all the affected individuals included macroglossia, macrosomia and omphalocele, while their mothers all were entirely normal. Pedigree analysis suggests that familial occurrence of the Wiedemann‐Beckwith syndrome may be due to delayed mutation.
Poland syndrome in British Columbia: Incidence and reproductive experience of affected persons
Authors: McGillivray Barbara C. , Lowry R. B. , Herrmann J.
Published: June 2005

Patients with Poland syndrome were ascertained through the British Columbia Health Surveillance Registry, through hospital records, and through practicing plastic and orthopedic surgeons. Of 44 patients who were ascertained, 28 had family histories taken and were examined. Physical findings were: absence of the sternal head of the pectoralis major in all patients, symbrachydactyly in most patients, and infrequent other associations such as imsilateral undescended testis, Möbius syndrome, clubfoot and submucous cleft palate. Family histories were “negative” in all cases. The 8 affected adults had 24 reportedly normal children. Mean paternal age was significantly higher than the paternal age in the population. The incidence was 1 /32,000 livebirths in British Columbia. It was concluded that in the British Columbia population the syndrome is usually a sporadic event.
Hypophosphatemic nonrachitic bone disease: An entity distinct from X‐linked hypophosphatemia in the renal defect, bone involvement, and inheritance
Authors: Scriver Charles R. , MacDonald Wendy , Reade Theresa , Glorieux Francis H. , Nogrady Bernadette , Opitz J. M.
Published: June 2005

We have identified 5 patients with a condition which we call hypophosphatemic bone disease (HBD). The clinical findings, appearing during late infancy include modest shortening of stature, bowing of the lower limbs, and nonrachitic bone changes. The concentrations of calcium, parathyroid hormone (PTH), and vitamin D in serum and the basal excretion of cyclic AMP in urine are all normal. The serum phosphorus level is constantly depressed; inpaired reclamation of phosphate anion by kidneys explains this finding.

Net tubular reabsorption of phosphate anion is “normal” at the low endogenous levels of filtered phosphate anion, yet below normal at elevated levels. The phosphaturic response to PTH infusion is abnormal in qualitative aspects. The characteristics of phosphate transport by kidney in HBD differ considerably from those described in X‐linked hypophosphatemia (XLH). The transport defect is not expressed in the (non‐epithelial) membrane of the erythrocyte.

Since the severity of bone disease is quite different in HBD and XLH, and yet serum (extracellular) phosphorus concentration is similarly low in both diseases, we propose that some process regulates the distribution of phosphorus between serum and bone, and that this process is affected in different ways in HBD and XLH.

In 2 pedigrees HBD is autosomal dominant with variable expression; the mode of inheritance is indeterminate in the other 3 families. The dominantly inherited hypophosphatemia is responsive to 1α OH analogues of vitamin D3.

There is presumptive evidence from the pedigree studies, and in the response to vitamin D analogues, that HBD is not a single entity.
Unstable dicentric iso(Yq) chromosome in a pseudohermaphrodite
Authors: Alexander D. S. , Soudek D. , Laraya P. , Francke U. , Opitz J. M.
Published: June 2005

An infant with ambiguous genitalia, uterus, tubes, and bilaterally undescended testes was found to have an unstable dicentric Yq chromosome, and 45,X/46,X,dic i(Yq)/47,X,i(Yq) i(Yq) mosaicism in lymphocytes and fibroblasts. A few other minor cell lines were found in peripheral blood lymphocytes. These findings indicate a high degree of mitotic instability in the centromere of the dicentric i(Yq) chromosome in this patient.
The frequency and financial burden of genetic disease in a pediatric hospital
Authors: Hall Judith G. , Powers Ellen K. , McLlvaine Robin T. , Ean Virginia H. , Opitz John M.
Published: June 2005

Medical charts from 1973 were reviewed from a general pediatric hospital whose admissions comprise 55% of those in the surrounding metropolitan area. The study population (4,115) was selected by using charts from January, March, May, July, September, and November of that year. The patients were categorized by diagnosis as to I) clearly genetic disorders, II) multifactorial disorders, III) developmental anomalies, IV) familial conditions, or V) nongenetic conditions. Of all admissions, 4.5% had genetic disorders (0.6% chromosomal 1.2% autosomal dominant, 2.2% autosomal recessive, 0.5% X‐linked recessive); 22.1% had multifactorial/polygenic conditions; 13.6% developmental anomalies; 13.2% familial disorders, and 46.6% nongenetic disorders.

Patients with clearly genetic disorders (category I) were found to have had an average of 5.3 admissions as compared to 1.6 for patients with nongenetic conditions (category V). Of genetic patients (category I) 12.8% had more than 20 admissions as compared to only 1.2% for all patients studied (categories I–V). The length of hospitalization for genetic patients was 3.4 days as compared to 3.0 for all patients and 2.5 for nongenetic patients. Although the cost per day for genetic patients, exclusive of physicians' fees, was lower than for all patients, the total cost of hospitalization was the same ($450.98 as compared to $446.99 for all patients). Of all patients, 60.2% studied had thirdparty coverage, whereas only 43.8% of genetic patients did. Of all patients, 15.6% paid “out of their pockets” whereas 30.5% of genetic patients did. This study suggests that genetic patients have many more admissions which are slightly more expensive; that they stay longer in hospital; that they travel farther, and that their families end up paying the bill more often. No unusual differences in religion, race, age, or parents' marital status or occupation were found. It was remarkable that only one quarter of patients with genetic illness had received genetic counseling.
Maternal age and down syndrome: Age‐specific incidence rates by single‐year intervals
Authors: Trimble Benjamin K. , Baird Patricia A. , Opitz John M.
Published: June 2005

Maternal age‐specific risks of giving birth to a child with the Down syndrome (DS) are given by single‐year age intervals. Such data are of value for more precise genetic counseling and in cost‐benefit analyses of prenatal diagnosis programs. The data were obtained by linking records of children with DS at the British Columbia Health Surveillance Registry (BCHSR) to the appropriate birth registrations to derive maternal ages. The data related to 519 affected children out of a total of 354,880 live births in British Columbia between 1961 and 1970. The results, which are based on a high level of ascertainment, are compared to those reported in the only other published study relating to risks by single‐year maternal age groupings, where completeness of ascertainment was estimated to be only 38%.
A goodness‐of‐fit test for the polygenic threshold model: Application to pyloric stenosis
Authors: Gladstien Keith , Lange Kenneth , Spence M. Anne , Murphy Edmond A.
Published: June 2005

A new test of goodness of fit for the polygenic threshold model is proposed. This test, when applied to disorders showing different incidence rates in males and females, is designed to account for ascertainment in more detail than previously done by other investigators. This is accomplished by computing the expected distribution of nuclear families with more than one affected sib conditioned on several family‐dependent variables, including whether each family was ascertained via only affeted boys or via at least one affected girl. A direct measure of the probability of observing a data set is thereby derived. The test, when applied to data on pyloric stenosis, exposes the critical nature of the ascertainment procedures. Different levels of statistical significance are obtained when mode of ascertainment is taken into account than when the mode of ascertainment is ignored.
Acute leukemia associated with trisomy 8 mosaicism and a familial translocation 46,XY,t(7;20)(p13;p12)
Authors: Riccardi Vincent M. , Humbert James R. , Peakman David , Herrmann J.
Published: June 2005

A patien is shown to have acute granulocytic leukemia, bone marrow mosaicism, and cutaneous fibroblast mosaicism for trisomy 8, an inherited reciprocal translocation involving the short arms of chromosomes 7 and 20, and a family history of cancer. A normal sister who had the same balanced chromosome translocation was evaluated for a preleukemic state; the results were unremarkable. The inherited translocation and postzygotically derived trisomy 8 are thought to represent additive factors contributing to the development of leukemia in the patient.
Phenotypic overlap of the BBB and G syndromes
Authors: Cordero José F. , Holmes Lewis B. , Opitz John M.
Published: June 2005

Three males with similar malformations including hypertelorism, telecanthus, cleft lip and palate, and hypospadias, have been evaluated. One also had a laryngotracheoesophageal cleft and therefore was considered to have the G syndrome. The other two had no stridor, aspiration, or difficulty swallowing, and were considered to have the BBB syndrome. Both disorders are associated with multiple malformations and can be most readily distinguished by the presence of laryngoesophageal abnormalities in the G syndrome and differences in facial features evident later in childhood. The BBB syndrome appears to be inherited as an X‐linked disorder with the affected female showing only telecanthus and hypertelorism. The G syndrome exhibits autosomal dominant inheritance with males more severely affected, although a few few females have had serious malformations in addition to telecanthus and hypertelorism. In the family with the G syndrome evaluated for this report, the mother of the affected infant had telecanthus, hypertelorism, and anosmia, the latter a feature not previously noted in this disorder.
Mosaicism in amniotic fluid cell cultures: Classification and significance
Authors: Hoehn Holger , Rodriguez Maria L. , Norwood Thomas H. , Maxwell Clare L. , Francke Uta
Published: June 2005

The last decade has witnessed increasing application of human cytogenetic technology to prenatal chromosome analysis. However, unlike the rather uniform peripheral blood T‐lymphocyte system which has provided most of our experience in human cytogenetics, long‐term amniotic‐fluid cell cultures display extreme cellular heterogeneity and disproportionate growth of certain cell types as a consequence of clonal amplification. When they enter cell culture, many of these cells are approching the terminal stages of their respective life spans and may have accumulated chromosomal aberrations. Concern about the possibility of true fetal mosaicism seems warranted chiefly in situations were multiple colonies display potentially viable aberrations. Clonal analysis, preferable of multiple clonal types, and attention to details of clonal morphology are likely to minimize diagnostic errors and undue apprehension resulting from mosaicism in amniotic‐fluid cell cultures.
The Dubowitz syndrome
Authors: Wilroy R. S. , Tipton R. E. , Summitt R. L. , Opitz John M.
Published: June 2005

The Dubowitz syndrome is an autosomal recessive condition of intrauterine growth retardation, postnatal growth retardation, microcephaly, characteristic facial appearance, high‐pitched hoarse voice, and borderline intelligence or mild mental retardation. Cleft palate may occur as well as hypospadias, cryptorchidism in affected males, and mild limb defects. The 13 cases reported in the European literature and eight personally examined patients are reviewed.
Anatomical analysis of the developmental effects of aneuploidy in man—the 18‐trisomy syndrome: II. Anomalies of the upper and lower limbs
Authors: Ramirez‐Castro José L. , Bersu Edward T. , Pettersen James C.
Published: June 2005

We report the anatomical variations of the limbs in eight infants with the trisomy‐18 syndrome that were dissected and studied in detail. In each case, the upper limbs showed defects which further define the specific influence of this aneuploidy on the development of its preaxial (radial) component, and the tendency towards reduction defects. Abnormalities included muscle variations concentrated along the radial margin of the forearm and hand, the absence of the definitive musculocutaneous nerve in all of the limbs, and reductions of the radial artery in four of the bodies. Pathogenetic mechanisms explaining the observed defects are discussed, and include: 1) a defect in peripheral nerve development; or 2) tissue necrosis.

The characteristic flexion deformities of the fingers seem to be due to a displacement of the tendons of extensors digitorum and digiti minimi.

The lower limbs did not show a consistent pattern of defects, except for the absence of some muscles (psoas minor, the tendon of flexor digitorum brevis to digit V), and the presence of several supernumerary muscles. These variations are discussed as possible nonspecific effects of 18‐trisomy on development.

The additional anatomical data from this and the first paper in this series [Bersu and Ramirez‐Castro, 1977] provide a more detailed picture of the trisomy‐18 phenotype which may be useful in corroborating an unconfirmed clinical diagnosis of the syndrome.
Hypoplastic left heart in a patient with 45,X/46,XX/47,XXX mosaicism
Authors: Bidot‐López Pascual , Matisoff David , Talner Norman S. , Hsia Y. Edward , Hall Judith G.
Published: June 2005

Recurrence risks for primary congenital heart lesions are well defined. An infant with hypoplastic left heart syndrome is observed to have a short neck with a full skin fold on the right side, unilateral single palmar crease, and whorls on all ten fingers. She was found to have the Ullrich‐Turner syndrome with mosaicism 45,X/46,XX/47,XXX. We believe the cardiac malformation was secondary to her aneuploidy. This could have important implications for prediction of recurrence risks to the parents. Chromosomal tests may be indicated for infants were severe congenital cardiac lesions, based on subtle clinical findings.
Prenatal cytogenetic diagnosis: First 1,000 successful cases
Authors: Hsu Lillian Y. F. , Kaffe Sara , Yahr Felice , Serotkin Andrea , Giordano Frances , Godmilow Lynn , Kim Hyon J. , David Karen , Kerenyi Thomas , Hirschhorn Kurt , Opitz John M.
Published: June 2005

From February 1969 to August 1976, we studied 1,048 amniotic fluids. Of these, 958 (91.4%) were primarily for prenatal cytogenetic diagnosis. Cytogenetic studies were attempted in 1,021 cases; the diagnosis was successful in 1,000 of these. The failure rate of obtaining a diagnosis from the amniotic fluid cell culture of the first amniocentesis was 5% (50 cases); 29 cases had a repeat tap and successful diagnosis was achieved in all. In 21 cases, a repeat tap was refused. Thus, the overall failure rate of obtaining a final cytogenetic diagnosis was 2.06% (21/1,021). There were 32 fetal losses after amniocentesis including 16 spontaneous second trimester abortions, 7 fetal deaths in utero and 9 stillbirths. In two additional cases, fetal death had occurred before amniocentesis. This number of fetal losses does not exceed the number that would be expected in the same maternal age group without amniocentesis. In our series, the frequencies of trisomy in maternal age groups 40 years and over, 37–39 years, 35–36 years, and under 35 years were 4.5, 3.14, 0 and 0% respectively. These frequencies are comparable to those reported from other prospective prenatal studies and higher than those of retrospective live born studies. Various problems and pitfalls in prenatal cytogenetic diagnosis are discussed.
Recessively inherited, late onset spondylar dysplasia and peripheral corneal opacity with anomalies in urinary mucopolysaccharides: A possible error of chondroitin‐6‐sulfate synthesis
Authors: Toledo S. P. A. , Mourão P. A. S. , Lamego C. , Alves C. A. R. , Dietrich C. P. , Assis L. M. , Mattar E. , Opitz John M.
Published: June 2005

Two male and two female sibs with an unusual form of spondyloepiphyseal dysplasia were reported. The main clinical features were low stature, moderate shortness of trunk and neck, abnormal span: height ratio, low‐normal UBS: LBS ratio, and peripheral corneal punctate opacities only seen by the slitlamp. Normal mental status was present. Typical metachromatic granules were not seen either in bone‐marrow cells or in peripheral blood cells. The X‐ray picture showed spondylar and pelvic dysplasias. Qualitative rather than quantitative anomalies were shown in the urinary mucopolysaccharides, mostly involving chondroitin‐6‐sulfate. The genetic data are consistent with autosomal recessive inheritance.
The summitt syndrome: Observations on a third case
Authors: Sells Clifford J. , Hanson James W. , Hall Judith G. , Summitt Robert L.
Published: June 2005

A 6 1/2 year old male presented with acrocephaly, brachydactyly, clinodactyly, mild syndactyly of the hands and feet, genu valgum, and marked obesity. Roentgenograms of the hands revealed hypoplasia or aplasia of the middle phalanges. Roentgenograms of the feet revealed hypoplasia of the middle phalanges and deformity of the proximal phalangeal epiphyses of the great toes. Chromosomes studies revealed a normal 46,XY karyotype, and psychological testing revealed low normal intelligence. Current data support autosomal recessive inheritance, although X‐linkage cannot be excluded.
Genetic and diagnostic considerations in three families with abnormalities of facial expression and congenital urinary obstruction: “The Ochoa syndrome”
Authors: Elejalde B. Rafael , Gorlin Robert J.
Published: June 2005

Seven patients (4 females, and 3 males) born in unrelated families, one of them consanguineous (first cousins), were affected by peculiar facies and gestures while smiling and crying, and by hydronephrosis, hydroureter and intravesical stenosis of the ureter, abnormal caliber of the urether in the prostatic and membranous portions, urethral valves, abnormal bladder with trabeculation, and diverticula associated with severe hypertrophy of the mucosa with sclerotic changes. The genetic analysis of these families indicates that the condition is probably autosomal dominant, with variable expressivity and incomplete penetrance. The syndrome represents alteration of facial and urinary developmental fields.

The peculiar facies allows early recognition of the condition, and this can be helpful for early assessment and treatment, leading perhaps to a better prognosis.
Genetic counseling: Provision and reception of information
Authors: Lippman‐Hand Abby , Fraser F. Clarke
Published: June 2005

To explore verbal communication between family and counselor, transcripts of 30 tape‐recorded or observed genetic counseling sessions were analyzed qualitatively. In half the cases, available data did not allow counselors to give parents a single estimate of the recurrence rate. Moreover, limits on the language available for communicating small probabilities made common the use of nonnumerical statements about a family's chance of having an abnormal child. Counselees processed the factual information they were given, most commonly translating recurrence rates in ways that emphasized the uncertainties associated with them. They tended to view these rates in binary form and requested guidelines for their behavior, indicating uncertainty about how to proceed with reproductive decision‐making. The findings suggest that strategies for processing information are an important element influencing parental perspectives on and approaches to the problems created by being at‐risk and to possible courses of action.
Syndromes associated with deletion of the long arm of chromosome 18[del(18q)]
Authors: Wilson Miriam G. , Towner Joseph W. , Forsman Irene , Siris Evelyn , Summitt Robert L.
Published: June 2005

We studied eight persons whose karyotypes demonstrated deletion of a portion of the long arm of chromosome 18. Seven of these persons who showed the typical del(18q) syndrome had a common deletion in band 18q21, most likely band q21.3, and in at least two persons the deletion was interstitial. Another mentally retarded child, dissimilar in appearance, had a more proximal deletion within band 18q12. Two different clinical syndromes resulted from deletions of these different segments of the long arm of chromosome 18.
The hand profile in de Lange syndrome: Diagnostic criteria
Authors: Halal F. , Preus M. , Herrmann J.
Published: June 2005

The hand pattern profiles of 18 previously published and 10 new cases of de Lange syndrome were compared to those of cases referred as suspects, but judged clinically and by numerical taxonomic methods not to have de Lange syndrome (non‐de Lange). Based on a Poznanski metacarpophalangel profile of the 2 groups of patients, a simple scoring system using 11 measurements was devised using the 16 most marked differences within and between metacarpals and phalanges. Of the metacarpals, the first is shorter than the second, third, fourth, or fifth; and the second fifth are shorter than the third or fourth. Of the middle phalanges, the third and fourth are shorter than the respective metacarpal and than the second and fifth middle phalanx. Of the distal phalanges, the fifth is shorter than the second. The mean Z score for these 11 measurements is further below normal in the de Lange group than in the non‐de Lange group. All 11 non‐de Lange patients had a score less than 17, and all 28 de Lange patients had a score of 18 or more.
Trisomy 14 mosaicism: Case report and review
Authors: Johnson Virginia Pineda , Aceto Thomas , Likness Clark , Hoehn Holger
Published: June 2005

Complete or partial trisomy 14 is compatible with life. However, in the former case, mosaicism is probably always present. A case of trisomy 14 mosaicism is reported. Comparisons are made with other trisomy 14, trisomy 14 mosaicism, and duplication 14q cases previously reported. As a group, they share some clinical manifestations. The phenotype consists of multiple congenital anomalies, including microcephaly, broad nose, wide mouth, high or cleft palate, micrognathia, congenital heart disease, intrauterine growth retardation, and mental retardation. The present patient also has asthma, eczema, and developmental asymmetry.
The SC phocomelia syndrome: Report of two cases with cytogenetic abnormality
Authors: Qazi Q. H. , Kassner E. G. , Masakawa A. , Madahar C. , Choi S. J.
Published: June 2005

We report two sibs with the SC phocomelia syndrome with typical facial appearance and bilateral absence or extreme hypoplasia of the fibula, radius, and thumb. One sib had bilateral humero‐ulnar and femoro‐tibial synostosis (absence of the elbow and knee joints). Application of the nosologic criteria of Herrmann and Opitz showed that there was no significant intrafamilial variation in phenotype. Chromosome analyses in both patients showed heterochromatic puffing and centromere separation involving many chromosomes, an observation that has previously been reported in patients with SC phocomelia and Roberts syndromes. More important, this finding will have significance in prenatal detection of a certain proportion of cases with these syndromes without resorting to the use of radiographic examinations.
Pectoralis major muscle defect and Poland complex
Authors: Castilla Eduardo E. , Paz Joaquin E. , Orioli Lêda M.
Published: June 2005

Pectoralis major muscle defect (PMD) was diagnosed in 27 infants from a series of 599, 109 live births in South America (1/22,189). In all 27 cases the PMD was unilateral, mainly affecting the right side (20/27), and there were more male (19/27) than female cases. No familial cases and no parental consanguinity were recorded. A positive correlation was observed between PMD and sex hormone intake and vaginal bleeding in the first trimester of pregnancy. In 12 (1/49,925) of the 27 PMD cases hypoplasia and/or syndactyly of the ipsilateral hand was also diagnosed. The index–middle interdigital space was affected in all 11 cases with symbrachydactyly. Additional congenital anomalies were observed in 4/27 cases, and they were: hemangiomas, hypospadias, and clubfeet. Poland complex (12 cases), isolated PMD (15 cases), and isolated symbrachydactyly (18 cases), showed a similar pattern for symmetry, sidedness, syndactyly type, and sex ratio.
Ring chromosome 6 in a child with minimal abnormalities
Authors: Carnevale Alessandra , Blanco Beatriz , Castillo Julieta , Castillo Victoria Del , Dominguez David
Published: June 2005

We describe a boy with a ring chromosome 6 and short stature, mild micrognathia, and bilateral transitional/simian creases. Five other patients with a ring 6 have been reported. The clinical and cytogenetic observations of all six patients are compared and discussed.
Monosomy 21: A possible stepwise evolution of the karyotype
Authors: Abeliovich Dvorah , Carmi Rivka , Karplus Michael , Bar‐Ziv Jacob , Cohen Maimon M.
Published: June 2005

We describe a female infant with manifestations of complete monosomy for chromosome 21 intrauterine growth retardation, failure to thrive, craniofacial anomalies, arthrogryposis‐like features, and psychomotor retardation. Chromosome analysis demonstrated mosaicism for three different cell lines in the various tissues examined; 45,XX,–21/46,XX,del(21)(q11) 46,XX. The existence of these three lines suggests a possible explanation for the few cases of “complete monosomy 21” which have been reported.