The dermatoglyphic and clinical features of the 9p trisomy and partial 9p monosomy syndromes

Summary The physical and dermatoglyphic features obtained from published reports of 128 patients with the trisomy 9p syndrome and 27 patients with the partial 9p monosomy syndrome are tabulated. This information is also provided on two new individuals with each of these chromosomal disorders. The dermal ridge patterns and palmar creases of trisomy 9p which are most helpful from a diagnostic standpoint are zygodactylous or absent palmar digital triradii, brachymesophalangy, reduced total finger ridge count, complex thenar/ID I patterns, transverse palmar ridge alignment, simian creases, distal axial triradii, and great toe and hallucal arch patterns. The characteristic features in partial 9p monosomy include dolichomesophalangy with accessory finger flexion creases, digital whorl patterns and elevated total finger ridge count, distal axial triradii, simian creases, and palmar dermal ridge dissociation.     

Disorders of finger flexion crease formation in various congenital anomalies of human development]

Deviations in finger flexion crease formation and ridge counts were analysed in normal and deformed (Down syndrome, arthrogriposis, diastrophic dysplasia) hands. Certain interrelation was found between decrease in the ridge count and the number of the finger flexion creases in Down syndrome. The changes observed agree with the hypothesis that intersegmental borders, and later, the joints and finger flexion creases are laid out on the basis of the positional information which is directed by morphogenetic gradients. This model enables us to interpret more or less unequivocally the changes in flexion creases in patients with arthrogriposis and diastrophic dysplasia (dwarfism).     

26例中国先天性晶状体异位患者的基因诊断及手术初步效果观察

摘要 目的：总结26例中国先天性晶状体异位患者的基因诊断及晶状体异位的手术疗效。方法：回顾性收集2019年3月-2020年3月就诊于北京同仁医院眼科来自不同家系的双眼先天性晶状体异位患者26例共52眼。收集详细临床资料，提取外周静脉血全基因组DNA，应用靶向基因捕获技术筛查晶状体异常相关基因突变对所有患者进行基因诊断，采取微创晶状体-玻璃体切除或白内障超声乳化手术，记录视力、人工晶状体位置及主要并发症，采用配对t检验对术前术后最佳矫正视力进行比较。结果：患者均为汉族，男性14例，女性12例，年龄（21.2±15.2）岁。25例患者存在FBN1突变，1例为GJA8突变。22例（84.6%）可确诊为马凡综合征，3例诊为"潜在马凡综合征"。42眼采取微创晶状体-玻璃体切除类手术，7眼采取白内障超声乳化类手术。有31眼（59.6%）存在视网膜变性行网膜激光光凝。平均随诊时间（15.7±3.7）月，术后6个月及末次随访的最佳矫正视力（最小分辨角对数视力，0.30±0.16及0.21±0.11）均高于术前（0.76±0.31），差异有统计学意义（t=12.492，P＜0.001；t=13.171，P＜0.001）。术后所有眼的人工晶状体位置及稳定性良好，未发生视网膜脱离、黄斑水肿、人工晶状体脱位、人工晶状体偏位、继发性青光眼、眼内炎等并发症。结论：马凡综合征是此26例中国人先天性晶状体异位的主要病因，FBN1基因突变检测可为确诊提供有力证据，微创晶状体-玻璃体切除联合人工晶状体悬吊术效果好。     

Dermatoglyphics in turner syndrome

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

Quantitative dermatoglyphic asymmetry: a comparative study between schizophrenic patients and control groups of West Bengal, India

Quantitative Fluctuating (FA) and Directional asymmetry (DA) of dermatoglyphics on digito-palmar complex were analyzed in a group of 111 patients (males: 61, females: 50) with schizophrenia (SZ), and compared to an ethnically matched phenotypically healthy control (males: 60, females: 60) through MANOVA, ANOVA and canonical Discriminant analyses. With few exceptions, asymmetries are higher among patients, and this is more prominent in FA than DA. Statistically significant differences were observed between patient and control groups, especially in males. In both sexes, FA of combined dermatoglyphic traits (e.g. total finger ridge count, total palmar pattern ridge count) are found to be a strong discriminator between the two groups with a correct classification of over 83% probability.     

Maternal effects on fingertip dermatoglyphics.

Significantly larger variation between sibships within families of male MZ twins than between sibships within families of female MZ twins, indicative of maternal influences, was found for 10 of 41 dermatoglyphic fingertip variables. Of these, five were thumb-related with the effect primarily on the thumb radial and ridge count (larger of radial and ulnar count). These same variables were previously found to have unequal variances in MZ twins of known placental type, and the results indicate maternal influences in singletons as well as twins for these variables. Although the total ridge count (TRC), previously shown to differ in MZ twins of known placental type (paralleling the thumb radial and ridge counts) did not reach significance, the trend indicated that the observed thumb changes may be reflected in the TRC as well. Little finger pattern type and ulnar counts also showed less variability in families of female MZ twins, but the interpretation is complicated by the concomitant differences in mean squares within-sibships for these little finger variables.     

Fingerprint pattern factors

Factor analysis was employed using the ulnar ridge count, radial ridge count, ridge count (the larger of the radial or ulnar count as generally used for calculating total ridge count), and pattern type for each finger in 720 twins. Pattern type and ulnar count displayed parallel factor loadings while loadings for radial and ridge count also paralleled each other. This relationship did not hold for the index finger, indicating the importance of pattern direction and greater pattern diversity for this digit. Total ridge count was most closely associated with a factor of ring and little finger radial and ridge count and only secondarily with an index finger factor. When radial and ulnar counts were deleted to make comparisons with earlier studies, the result was factors having groupings of variables identical with previous reports. It appears that factor analysis results in consistent extraction of identical or very similar factors from different populations, and the use of radial and ulnar counts adds more information than when only the larger of the two counts is considered.     

中国十一个少数民族的皮纹研究 Ⅰ.指纹

研究了中国11个少数民族(12个群体)5013人的指纹花样和指纹脊线数,计算出各项基本参数,比较分析了不同性别、左右侧、不同民族和人种间的差异以及指纹花样和指纹脊线数在不同手指上的分布特点。分析表明,这些民族的指纹具有各自的特点又具有蒙古人种的一般特性。     

Induction of macrophage chemotaxis by aortic extracts from patients with Marfan syndrome is related to elastin binding protein

Marfan syndrome is an autosomal dominantly inherited disorder of connective tissue with prominent skeletal, ocular, and cardiovascular manifestations. Aortic aneurysm and dissection are the major determinants of premature death in untreated patients. In previous work, we showed that extracts of aortic tissues from the mgR mouse model of Marfan syndrome showed increased chemotactic stimulatory activity related to the elastin-binding protein. Aortic samples were collected from 6 patients with Marfan syndrome and 8 with isolated aneurysms of the ascending aorta. Control samples were obtained from 11 organ donors without known vascular or connective tissue diseases. Soluble proteins extracted from the aortic samples of the two patient groups were compared against buffer controls and against the aortic samples from controls with respect to the ability to induce macrophage chemotaxis as measured using a modified Boyden chamber, as well as the reactivity to a monoclonal antibody BA4 against bioactive elastin peptides using ELISA. Samples from Marfan patients displayed a statistically significant increase in chemotactic inductive activity compared to control samples. Additionally, reactivity to BA4 was significantly increased. Similar statistically significant increases were identified for the samples from patients with idiopathic thoracic aortic aneurysm. There was a significant correlation between the chemotactic index and BA4 reactivity, and the increases in chemotactic activity of extracts from Marfan patients could be inhibited by pretreatment with lactose, VGVAPG peptides, or BA4, which indicates the involvement of EBP in mediating the effects. Our results demonstrate that aortic extracts of patients with Marfan syndrome can elicit macrophage chemotaxis, similar to our previous study on aortic extracts of the mgR mouse model of Marfan syndrome (Guo et al., Circulation 2006; 114:1855-62).     

广西544例瑶族儿童的皮纹学观察

本文对广西544例瑶族儿童的皮纹进行了观察分析,计算出指纹类型的百分率、指纹脊线总数、a-b脊线数、主线横向指数、掌纹主线止区、指间及大小鱼际真实花样的百分率、踇趾球部花样的百分率共七项基本参数。与汉族比较,瑶族的皮纹既有自己的特点,又具有汉族的一般特性。     

Fixed and random effects in the variation of the finger ridge count: a study of fragile-X families.

A maximum-likelihood scoring technique for analysis of pedigree data allows for the concurrent estimation of random and of fixed effects in a quantitative trait. We included both types of effects in genetic models, to study the sources of variation in finger ridge count in 54 large families affected with the fragile-X disorder. The fixed effects were represented by fragile X and sex, and the random effects by environmental and genetic variance. We found a significant effect of fragile X in the mean of the finger ridge count on the thumb (finger 1) and index finger (finger 2), which had the lowest heritability and a negligible nonadditive component of genetic variance. This was in contrast with ridge counts on fingers 3 and 4, which showed little fragile-X effect, but high heritability and a significant nonadditive component. A contrast in genetic properties for ridge counts on fingers 1 and 2, compared with these counts on the remaining three fingers, may be relevant to increased selection pressures on functions of the thumb and of the index finger in evolution of modern man. We have also demonstrated an important effect of fragile X in increasing the additive variance in covariance, especially between male pairs. These findings suggest that the effect of the fragile-X genotype in finger ridge count is additive and superimposed on the normal hereditary variations in this trait.     

桂西壮族手皮纹的分析

本文对广西西部500例健康壮族大、中学生的手皮纹进行了观察分析,计算出各型指纹频率、指纹脊线总数、指纹频度指数、atd角度、a-b脊线数、τ距比、主线横向指数、皮纹花样出现率、掌褶纹出现率共九项基本参数,并将这些数值与汉族作了比较,桂西壮族的手纹与汉族既有相似之处,又有本民族的特点。     

家族手纹嵴线的遗传相关性分析

本文通过对28个汉族家族共230人的指纹进行捺印、编号、测量、统计分析, 研究亲子代之间指纹的总嵴线数、各指位嵴线数、a-b嵴线数以及atd角之间的关系, 计算它们之间的相关系数以及回归方程,分析家族指纹的遗传性。     

Variations on dermal ridges in nine population groups of maharashtra,india. III. Asymmetry and interdigital diversity

Variations in asymmetry and interdigital diversity for the three finger-dermatoglyphic traits, total finger ridge count (TRC), absolute total finger ridge count (ARC), and finger pattern intensity index (PII) have been studied here from a sample of 646 males belonging to nine population groups from Maharashtra, India. It is seen that at such local level of population differentiation the ridge count measures TRC and ARC discriminate the population better as compared to PII. A considerable amount of variations also exist in their asymmetries and interdigital diversities and these suggest the possibility of their genetic controls. Such genetic controls might mediate both asymmetry and interdigital diversity jointly, as there seems to be positive correlation between these measures with respect to all the three finger-dermatoglyphic traits.     

Asymmetry of finger ridge countsamong four tribal populations of Andhra Pradesh, India

The asymmetry among the four tribal populations Dulia, Kotia, Manne Dora and Manzai Mali is reported. The mean directional asymmetry (MDA) and mean absolute asymmetry (MAA) were measured for homologous fingers. The asymmetry follows a decreasing trend in radio-ulnar direction with higher mean values in thumb and index finger. The individual variation is also higher in these fingers. Neither sexual nor population differences are consistent. Jantz's Square root of A2 (another measure to assess asymmetry) for total finger ridge count and absolute finger ridge count does not indicate any significant sexual or ethnic differences. The results suggest that the underlying mechanisms influencing the level of asymmetry may be similar for all groups, and that certain dermatoglyphic areas like the thumb are more vulnerable to developmental/environmental stress, that cause asymmetry at the developmental stage.     

Linkage analysis of a model quantitative trait in humans: finger ridge count shows significant multivariate linkage to 5q14.1

The finger ridge count (a measure of pattern size) is one of the most heritable complex traits studied in humans and has been considered a model human polygenic trait in quantitative genetic analysis. Here, we report the results of the first genome-wide linkage scan for finger ridge count in a sample of 2,114 offspring from 922 nuclear families. Both univariate linkage to the absolute ridge count (a sum of all the ridge counts on all ten fingers), and multivariate linkage analyses of the counts on individual fingers, were conducted. The multivariate analyses yielded significant linkage to 5q14.1 (Logarithm of odds [LOD] = 3.34, pointwise-empirical p-value = 0.00025) that was predominantly driven by linkage to the ring, index, and middle fingers. The strongest univariate linkage was to 1q42.2 (LOD = 2.04, point-wise p-value = 0.002, genome-wide p-value = 0.29). In summary, the combination of univariate and multivariate results was more informative than simple univariate analyses alone. Patterns of quantitative trait loci factor loadings consistent with developmental fields were observed, and the simple pleiotropic model underlying the absolute ridge count was not sufficient to characterize the interrelationships between the ridge counts of individual fingers.     

A defense mechanism of human cells in the radioadaptive response and antimutagenic activity of interferon has common paths

The radioadaptive response was assessed by the chromosome aberration test in lymphocytes of humans with hereditary diseases of connective tissue, which were earlier characterized as repair-deficient: Marfan syndrome (SM), Elers-Danlos syndrome (E-D), and homocystinurea (HCU). The radioadaptive response was observed in cells of patients with Marfan syndrome and Elers-Danlos syndrome but not in cells of patients with homocystinurea. Parameters of cell protection against gamma-irradiation at radioadaptive response were similar to those obtained in cells pretreated with interferon. These data indicate, first, the possibility that repair pathways and the radioadaptive response are independent and second, that there are common pathways of protection upon radioadaptive response and the antimutagenic action of interferon.     

湖南侗族的手纹研究

报道了湖南通道侗族337例正常人的指纹型、总指纹嵴数（TFRC）、a-b纹嵴线（a-bRC)、atd角、轴三角百分距（tPD)、大鱼际纹、小鱼际纹、指间区纹、掌褶纹、掌纹主线横向指数（MLIT）等手纹参数正常值,并与侗族不同人群和湖南周边不同民族进行了比较,发现湖南侗族手掌真实花纹和掌褶纹分布频率与湖南周边其他已研究过的民族和侗族群体存在明显差异。     

Craniofacial manifestations in the Marfan syndrome: palatal dimensions and a comparative cephalometric analysis

The purpose of this study was to determine how the craniofacial morphology, evaluated from dental casts and lateral cephalograms, in individuals affected by the Marfan syndrome diverge from healthy control groups. The high and narrow palatal vault as well as maxillary and mandibular retrognathy were strongly correlated to the syndrome. About 70% of the Marfan syndrome patients (n = 76) had been referred for orthodontic treatment, mostly because of crowded teeth or extreme maxillary overjet. In 36%, the orthodontic treatment was carried out before diagnosis or suspicion about the Marfan syndrome. In comparison to healthy orthodontic patients (n = 86), selected because of presence of high and narrow palatal vaults, crowding of teeth, extreme maxillary overjet, and open bite were much more prevalent in the Marfan syndrome patients than in the orthodontic control group.     

Cosegregation of elastin-associated microfibrillar abnormalities with the Marfan phenotype in families.

The Marfan syndrome is a serious heritable connective-tissue disorder characterized primarily by ocular, cardiovascular, and musculoskeletal abnormalities but also involving multiple other tissues and organs of the body. Inherited as an autosomal dominant disorder, the etiology and pathogenesis of the Marfan syndrome are presently unknown. We have documented consistent apparent deficient content of elastin-associated microfibrillar fibers by indirect immunofluorescent (IF) studies of Marfan skin, as well as deficient accumulation of related fibrous materials in cultures of Marfan fibroblasts as compared with normal controls and patients with other heritable disorders of connective tissue. These data have suggested that abnormalities in the microfibrillar component of elastic-fiber systems may have a role in the etiology and pathogenesis of the Marfan syndrome. In the present study, we have analyzed the IF staining patterns of skin and fibroblast cultures from Marfan syndrome patients and normal first-degree relatives in nine Marfan kindreds. Three of these families had at least one affected individual in each of 2 generations, permitting intergenerational comparison of IF patterns. Six kindreds had one or more affected individuals in a single generation, making comparisons between siblings and/or parent-child possible. In all cases, IF abnormalities cosegregated with the Marfan phenotype and all nonaffected family members were normal. Within family groups containing more than one affected individual, the IF staining patterns were similar between affected patients. These data provide further confirmation of consistent and relatively specific deficiency of microfibrillar fibers in Marfan syndrome.