Skinfold thickness, body measurements and age changes in Trio and Wajana Indians of Surinam

The nutritional status of Trio and Wajana is representative of a group living under primitive conditions in a favourable environment. In adults, skinfold thickness remains constant throughout life. The folds of females are thicker than those of males, the difference being most marked over the triceps and least at the subscapular. In children, skinfold thickness at the subscapular and suprailiac sites decreases from the 3–4 to the 5–6 age group, after which there is a rapid increase towards adult values. Age changes over the triceps are less marked, especially in males. Other measurements included arm and calf circumference, bone dimensions at the wrist, elbow, ankle and knee, weight, stature, leg and arm length and biacromial breadth. The two tribes differ significantly in several measurements. The Wajana are heavier but they tend to be shorter in stature, with shorter legs but broader elbows and wrists. Shoulder breadth and the circumference of the upper arm are greater in Wajana males but females do not show these differences. The Wajana have longer and broader heads, but the cephalic index is similar. The tribes also differ in hair texture.     

47,XXY males: sex chromosomes and tooth size.

Permanent tooth crowns of 47,XXY males were found to be generally larger than those of control males and females and their first-degree male and female relatives. These results suggest that tooth-size increase in 47,XXY males is due to a direct genetic effect and support the concept of the presence of a specific growth gene (or genes) in the human X and Y chromosomes. The effect of this gene (or genes) seems to be the promotion of tooth growth, and the Y chromosome is more effective than the X chromosome in this respect.     

Effects of the Y chromosome on quantitative growth: an anthropometric study of 47,XYY males

The aim of the study was to investigate the effects of the Y chromosome on different body and head dimensions of 47,XYY males, and especially its effect on their body proportions. From seven adult 47,XYY males 25 anthropometric measurements were recorded and compared with four male relatives and 42 control males. In most dimensions 47,XYY males were larger than the normal males, the difference being mainly between 0.5 and 1.5 S.D. units. The body proportions of 47,XYY males were found to be similar to those of the normal males when the effect of size was allowed for. It is concluded that the extra Y chromosome in 47,XYY males causes an increase in their growth without affecting the body proportions. This finding suggests that the Y chromosome contains gene(s) which affects growth by increasing its quantitative outcome. This effect may be mediated by a direct action of the Y chromosome on the cells. It also may seem that the Y chromosomal gene(s) influence the development of the sex difference in height and body size.     

孟高棉语族未识别民族的体质特征

为了探究孟高棉语族未识别民族族群特征,研究组以412名（男性220人,女性192人）云南孟高棉语族未识别民族成人为例,运用人体测量学方法对该族群男女头面部与体部58项指标及20个指数进行测量和分析,并选取头长、头宽、面宽、形态面高、身高、坐高、肩宽、骨盆宽8项指标与30个已研究族群进行比较。结果表明：1)男性各项体质指标除大腿围和6项皮褶厚度指标外,都大于女性各项指标,男女身高均以矮型为主;2）孟高棉语族未识别民族男性上眼睑皱褶率为88.2%,女性上眼睑皱褶率为94.3%。男性蒙古褶率为41.8%,女性蒙古褶率为36.5%。鼻根高度男性以中等型为主,女性以低平为主。耳垂类型男性以圆形率为主,女性以三角形率为主;3）依据指数分型出现率得出：孟高棉语族未识别民族男女均以圆头型、高头型、阔头型、狭鼻型、中腿型、中胸型、宽肩型率最高;4）聚类分析和主成分分析显示孟高棉语族未识别民族与布朗族、基诺族、布依族、侗族比较接近。遗传因素、环境条件与饮食习惯是这些民族体质特征接近的原因。     

Craniofacial variation and growth in the Prader-Labhart-Willi syndrome

A study of anthropometric variation and craniofacial growth in individuals with the Prader-Labhart-Willi syndrome (PLWS) illustrates the utility of anthropometry in clinical evaluation and research. Anthropometric measurements, including head length and breadth, minimum frontal diameter, and head circumference, were obtained on 38 PLWS individuals (21 with chromosome 15 deletions) with an age range from 2 weeks to 39 years. No anthropometric differences were found between the two chromosome subgroups. A relative deceleration in the growth of certain craniofacial dimensions (head circumference and length) is suggested by the negative correlations between age and Z-scores for the measurements. Raw values for minimum frontal diameter and head breadth were near or below the 5th percentile curve, while almost all values for head length and circumference fell within normal limits. The data support suggestions that dolichocephaly be considered an early diagnostic feature of PLWS. Furthermore, the status of narrow bifrontal diameter as a major feature of PLWS is confirmed.     

Novel cytogenetic finding: an unusual X;X-translocation in Mehsana buffalo (Bubalus bubalis)

Cytogenetic investigations of a phenotypically normal Mehsana river buffalo calf (Bubalusbubalis) revealed an XXY chromosome complement due to X;X-translocation in all screened metaphase plates. The chromosomal anomaly was identified by GTG-banding while CBG- and RBG-banding revealed two heterochromatin blocks and that one of the two X chromosomes was late replicating, respectively. The normal cytogenetic profiles of sire, dam and relatives of the calf suggest that the anomaly could have arisen spontaneously during oogenesis. This is the first report on a male river buffalo calf having an XXY chromosome complement with translocation between the two X chromosomes.     

Tall stature, insulin resistance, and disturbed behavior in a girl with the triple X syndrome harboring three SHOX genes: offspring of a father with mosaic Klinefelter syndrome but with two maternal X chromosomes

AIMS: To describe the tall stature and its possible underlying mechanism in a Caucasian girl (age 12 years and 10 months) with 46,XX (28%)/47,XXX (72%) mosaicism and to identify the parental origin of her extra X chromosome. METHODS: The fasting glucose-to-insulin ratio was studied. The karyotypes of the girl and her parents as well as the presence of SHOX copies and the parental origin of her extra X chromosome were assessed. RESULTS: Clinical examination revealed a tall stature and severe acne, and endocrinological/metabolic assessment revealed insulin resistance. Fluorescence in situ hybridization cytogenetic analysis depicted the presence of three SHOX genes in the 47,XXX cell line of the patient. Karyotyping of her parents showed a normal 46,XX karyotype in the mother and 46,XY(93%)/47,XXY(7%) Klinefelter mosaicism in the father. However, DNA analysis unequivocally showed maternal origin of the extra X chromosome of the patient. CONCLUSIONS: This report suggests that SHOX gene triplication may produce a tall stature, even in the presence of preserved ovarian function. X triplication might predispose to insulin resistance and behavioral disorders.     

Living conditions and growth of maya indian and non-maya boys from yucatan in 1993 in comparison with other studies

The purpose of this study was to characterize the biological status and living conditions of boys inhabiting the northern part of Merida. Studies were conduoted in summer 1993, in several secondary schools in the northern part of the Merida, capitol of Yucatan, Mexico. The material consisted of biological measurements of 497 boys aged from 12 to 17 years. Also parents of these children were interviewed. Mothers (497) aged from 28 to 60 years (40 on the average) and fathers (495) aged from 30 to 62 years. Values of biological characteristics were calculated for the whole material, and also separately for the families in which both parents were Maya Indians, Non-Mayas and mixed. The differences between Mixed and Non-Mayas were distinct in stature, trunk length, upper extremity length, head length, head circumference, hips breadth index, cephalic and frontal indices, thus, mainly in body size and the head and face form. Differences between Mayas and Non-Mayas were distinct in the most measures: direct measurements ofbody weight and height, trunk and both extremities length, shoulder breadth, head length, face and nose breadth, head, waist and hips circumferences (which did not show differences between two other groups as a direct measure) and triceps skinfold thickness. The differences were also found in some indices (cephalic, frontal and face) and this probably has a non-adaptive character. The difFerences in other body proportions, which could be rather easy adjustable in the meaning on ontogenetic development were not found. The constitutional differences were observed in stature, arm fatfold and hip breadth. Body proportions were under the strong influence of living conditions and this probably caused the lack of difFerences between 3 ethnic groups. The contemporary Maya boys in comparison with the Steggerda data (1941) were on average 10 cm taller, more plumb by 10 units of BMI, and had more rounded heads. Head, which is under a strong genetic control and has more conservative character showed differences between Maya and Mixed groups versus Non-Mayas.     

Body mass prediction from skeletal frame size in elite athletes

Body mass can be estimated from measures of skeletal frame size (stature and bi-iliac (maximum pelvic) breadth) fairly accurately in modern human populations. However, it is not clear whether such a technique will lead to systematic biases in body mass estimation when applied to earlier hominins. Here the stature/bi-iliac method is tested, using data available for modern Olympic and Olympic-caliber athletes, with the rationale that these individuals may be more representative of the general physique and degree of physical conditioning characteristic of earlier populations. The average percent prediction error of body mass among both male and female athletes is less than 3%, with males slightly underestimated and females slightly overestimated. Among males, the ratio of shoulder to hip (biacromial/bi-iliac) breadth is correlated with prediction error, while lower limb/trunk length has only a weak inconsistent effect. In both sexes, athletes in "weight" events (e.g. , shot put, weight-lifting), which emphasize strength, are underestimated, while those in more endurance-related events (e.g., long distance running) are overestimated. It is likely that the environmental pressures facing earlier hominins would have favored more generalized physiques adapted for a combination of strength, speed, agility, and endurance. The events most closely approximating these requirements in Olympic athletes are the decathlon, pentathlon, and wrestling, all of which have average percent prediction errors of body mass of 5% or less. Thus, "morphometric" estimation of body mass from skeletal frame size appears to work reasonably well in both "normal" and highly athletic modern humans, increasing confidence that the technique will also be applicable to earlier hominins.     

The late-replicating X chromosome in digynous mouse triploid embryos

Using BrdU-labeling and acridine orange staining, the behavior of X-chromosome replication was studied in 28 XXX and 19 XXY digynous mouse triploids. In some of these the paternal and maternal X chromosome could by cytologically distinguished. Such embryos were obtained by mating chromosomally normal females with males carrying Cattanach's X chromosome which contains an autosomal insertion that substantially increases the length of this chromosome. In the XXX triploids there were two distinct cell lines, one with two late-replicating X chromosomes, and the other with only one late-replicating X. The XXY triploids were also composed of two cell populations, one with a single late-replicating X and the other with no late replicating X chromosome. Assuming that the late-replicating X is genetically inactive, in both XXX and XXY triploids, cells from the embryonic region tended to have only one active X chromosome, whereas those from the extra-embryonic membranes tended to have two active X chromosomes. The single active X chromosome was either paternal or maternal in origin, but two active X chromosomes were overwhelmingly maternal in origin, suggesting paternal X-inactivation in extra-embryonic tissues.     

G6PD-Puerto Limón: A new deficient variant of glucose-6-phosphate dehydrogenase associated with congenital nonspherocytic hemolytic anemia

Summary H-Y antigen was examined in eight male patients with X polysomies, namely four patients with 47,XXY, one patient with 48,XXXY, two patients with 49,XXXXY, and one patient with the mosaic 47,XXY/49,XXXXY. In all patients the H-Y antigen titers were lower than in normal 46,XY males. However, a linear correlation between the number of additional X chromosomes and the reduction of H-Y antigen titers could not be demonstrated. Such a correlation would be expected if the gene for the repressor of H-Y antigen expression is active also on the additional X chromosomes.     

中国汉族乡村成年人的身高与体质量的地理性分布

目前尚未见大样本的中国乡村汉族人随纬度、经度增长,身高、体质量值的变化规律的报道。为此,2009～2013年测量了16501例汉族人(共36个调查地区)乡村成人的身高、体质量等13项指标值,并计算了3项指数。研究不同纬度、经度地区汉族乡村成人的身高、体质量值变化规律以及这种规律形成的原因。研究发现,汉族人的身高、体质量与纬度、经度均呈正相关。随纬度增加,男性和女性的躯干、下肢的高度值均增大是身高与纬度呈正相关的原因。随纬度增加,男性身高的增加、躯干的增粗共同促进体质量与纬度呈正相关,女性身高、躯干围度、四肢围度、背部皮下脂肪厚度值的增大是体质量与纬度呈正相关的原因。男性随经度增加,身高增大,躯干部的增粗是导致体质量与经度相关的原因。而四肢和躯干的皮下脂肪、四肢的围度并不随经度的增加而线性增大。随经度增加,女性的身高、臀围呈线性增大,这是导致女性体质量与经度相关的主要原因。遗传、环境、经济发展水平的差异是导致身高、体质量与纬度、经度呈正相关的因素。     

Meiotic studies of a 38,XY/39,XXY mosaic boar

Klinefelter's syndrome (KS) is the most common sex chromosome abnormality identified in human males. This syndrome is generally associated with infertility. Men with KS may have a 47,XXY or a 46,XY/47,XXY karyotype. Studies carried out in humans and mice suggest that only XY cells are able to enter and complete meiosis. These cells could originate from the XY cells present in mosaic patients or from XXY cells that have lost one X chromosome. In pig, only 3 cases of pure 39,XXY have been reported until now, and no meiotic analysis was carried out. For the first time in pig species we report the analysis of a 38,XY/39,XXY boar and describe the origin of the supplementary X chromosome and the chromosomal constitutions of the germ and Sertoli cells.     

大蹼铃蟾的两性异形

2018年6—8月,测量采自云南省昆明市金殿水库后山的71只(47♂,24♀)大蹼铃蟾Bombina maxima成体的体长、头长、头宽等15项形态特征指标并检验该物种的两性异形。结果表明:雄性平均体长为53.54 mm±1.14 mm,雌性平均体长为52.74 mm±1.45 mm,雄性与雌性平均体长比为1.015,两性异性指数为0.01;大蹼铃蟾的体长、体质量与性别之间的差异无统计学意义;除了雌性的眼间距外,其余13项形态特征与体长均有极显著相关性;以体长为协变量的协方差分析结果显示,大蹼铃蟾的头长、吻长、前臂宽、腿或后肢全长、胫长、胫宽和跗足长在两性间的差异有高度统计学意义;雄性的这7项形态特征随体长的生长速率大于雌性。性选择假说能解释大蹼铃蟾的两性异形现象。     

Double autosomal/gonosomal mosaic aneuploidy: study of nondisjunction in two cases with trisomy of chromosome 8

We report cytogenetic and molecular investigations performed in two cases of mosaic trisomy 8 combined with mosaic sex chromosome aneuploidy. In a 35-year-old female, presenting with short stature, gonadal dysgenesis, and a multiple congenital anomalies/mental retardation syndrome typical of trisomy 8, chromosome analysis from peripheral lymphocytes showed the presence of three cell lines, whose karyotypes were 45,X (59.2%), 46,X,+8 (1.2%), and 47,XX,+8 (39.6%), respectively. The same cell lines were found in a skin fibroblast culture, though in different proportions. The second patient, a 9-month-old male with multiple skeletal abnormalities, showed a 47,XY,+8 and a 47,XXY cell line in both peripheral lymphocytes (61.7% and 38.3%, respectively) and skin fibroblasts (92.8% and 7.2%, respectively). To determine the events underlying the origin of these complex karyotypes we performed Southern blot and polymerase chain reaction (PCR) analysis using polymorphic DNA markers from the X chromosome and from chromosome 8. Both supernumerary chromosomes 8, and, in case 2, the two X chromosomes, appeared to be identical, lacking detectable recombination events. We conclude that, in both cases, the most likely mechanism underlying the origin of the mosaic cell lines was formation of a normal zygote, followed by mitotic errors during early divisions.     

Prevalence of Klinefelter's syndrome (47,XXY) in a general male population

In a representative sample of 3,840 males examined for military service chromosome examination was made in those with testes equal to or less than 12 ml and those with a stature equal to or greater than 181 cm, as well as in males not recruited because of physical or mental disability. Testes equal to or less than 12 ml were found in 59 patients (1.45%). Three of these males had a 47,XXY karyotype (5.1%), the prevalence among the total sample of 3,840 being 0.78 per 1,000. Hypogonadal signs, except for gynaecomastia, which was only present in one patient, were found in the saem proportion as in 47,XXY males ascertained in institutions and clinics. The results of EEG investigations were alos similar to those found in psychiatric institutions. The intelligence level was comparatively low; none had an IQ above 100. The personality traits corresponded to those found in institutionalized Klinefelter males.     

Body mass and stature estimation based on the first metatarsal in humans

Archaeological assemblages often lack the complete long bones needed to estimate stature and body mass. The most accurate estimates of body mass and stature are produced using femoral head diameter and femur length. Foot bones including the first metatarsal preserve relatively well in a range of archaeological contexts. In this article we present regression equations using the first metatarsal to estimate femoral head diameter, femoral length, and body mass in a diverse human sample. The skeletal sample comprised 87 individuals (Andamanese, Australasians, Africans, Native Americans, and British). Results show that all first metatarsal measurements correlate moderately to highly (r = 0.62-0.91) with femoral head diameter and length. The proximal articular dorsoplantar diameter is the best single measurement to predict both femoral dimensions. Percent standard errors of the estimate are below 5%. Equations using two metatarsal measurements show a small increase in accuracy. Direct estimations of body mass (calculated from measured femoral head diameter using previously published equations) have an error of just over 7%. No direct stature estimation equations were derived due to the varied linear body proportions represented in the sample. The equations were tested on a sample of 35 individuals from Christ Church Spitalfields. Percentage differences in estimated and measured femoral head diameter and length were less than 1%. This study demonstrates that it is feasible to use the first metatarsal in the estimation of body mass and stature. The equations presented here are particularly useful for assemblages where the long bones are either missing or fragmented, and enable estimation of these fundamental population parameters in poorly preserved assemblages.     

Secular change in body height and cephalic index of Croatian medical students (University of Rijeka)

An investigation of body height and cephalic measurements was performed among five groups of first-year medical students of the University of Rijeka School of Medicine (Rijeka, Croatia). Body height and different cephalic measurements showed normal distribution, both in male and female students. Differences between measured variables were statistically analyzed by ANOVA. No significant difference with regard to year of birth was found in either males or females. The cephalic index showed no statistically significant difference between sexes or with regard to body height, while head breadth and length correlated significantly with birth year and body height, both in males and females. Head breadth decreased within the study period, while head length increased. Results were compared with those of similar studies from the mid-20th century. Student's t-test showed a significant change of cephalic indices and other head measurements, but not of body height, in males. The frequency difference between various head shapes was tested using the chi-square test. A significant increase of dolichocephalic and mesocephalic and a significant decrease of brachycephalic head shape were found in both sexes. These results suggest a continuity of the debrachycephalization process observed in our population at the past midcentury.     

Sex chromosomal polymorphism in the earwig Forficula

A four-year population sampling programme revealed small annual and marked seasonal variations in the frequency of adult XXY males of the earwig Forficula auricularia, where XY and XXY individuals co-exist in the same population as a polymorphism. It is suggested that this may have been due to an effect of the extra X chromosome on development rate. The extra X was also found to reduce autosomal chiasma frequency slightly and to change bodily morphometrics: antenna length was increased and head and abdomen length decreased in a compensating fashion. Chiasma and multivalent frequencies were analysed in 50 spontaneously autotetraploid cells. The range of sex chromosome numbers found in different species, and the variation in Forficula due to allosomal polymorphism and non-disjunction, suggests that sex determination in earwigs does not involve a balance mechanism. The role of polyploidy in Dermapteran evolution is supported.Dedicated to Dr. Sally Hughes-Schrader for her many valuable contributions to the field of cytology.     

Chromosome abnormalities in sperm of individuals with constitutional sex chromosomal abnormalities

The most common type of karyotype abnormality detected in infertile subjects is represented by Klinefelter's syndrome, and the most frequent non-chromosomal alteration is represented by Y chromosome long arm microdeletions. Here we report our experience and a review of the literature on sperm sex chromosome aneuploidies in these two conditions. Non mosaic 47,XXY Klinefelter patients (12 subjects) show a significantly lower percentage of normal Y-bearing sperm and slightly higher percentage of normal X-bearing sperm. Consistent with the hypothesis that 47,XXY germ cells may undergo and complete meiosis, aneuploidy rate for XX- and XY-disomies is also increased with respect to controls, whereas the percentage of YY-disomies is normal. Aneuploidy rates in men with mosaic 47,XXY/46,XY (11 subjects) are lower than those observed in men with non-mosaic Klinefelter's syndrome, and only the frequency of XY-disomic sperm is significantly higher with respect to controls. Although the great majority of children born by intracytoplasmic sperm injection from Klinefelter subjects are chromosomally normal, the risk of producing offspring with chromosome aneuploidies is significant. Men with Y chromosome microdeletions (14 subjects) showed a reduction of normal Y-bearing sperm, and an increase in nullisomic and XY-disomic sperm, suggesting an instability of the deleted Y chromosome causing its loss in germ cells, and meiotic alterations leading to XY non-disjunction. Intracytoplasmic injection of sperm from Y-deleted men will therefore transmit the deletion to male children, and therefore the spermatogenic impairment, but raises also concerns of generating 45,X and 47,XXY embryos.