新疆柯尔克孜族肤纹初步研究

本文报道新疆柯尔克孜族肤纹参数的正常值,样本中有男女各500例,本文的研究包括13类,它们是:指纹总嵴数,a-b间嵴数,指纹,指间花纹,大鱼际纹,小鱼际纹,猿线,掌指c三叉缺失,多个t三叉点,(足母)趾球部纹,足小鱼际纹,趾间纹,足跟纹。     

一千例甘南藏族手纹学分析

本文报道1000例甘南藏族手纹学正常值。各类指端纹型按出现频率的多少依次为:尺箕(Lu)、斗形(W)、双箕(Wd)、桡箕(Lr)、弓形(A)、帐弓(A~t)。掌褶正常型占74.45±0.97、通贯手占8.15±0.61、总指嵴数168.10±51.54、a—b嵴数34.95±8.92、atd角(度)39.18±4.36。     

Phenotypic features of pure 9p deletion in a male infant include cryptorchidism, congenital heart defects and postaxial polydactyly

We report a 2 1/2-year-old male infant with a karyotype of 46,XY,del(9)(p22) and the phenotypic features of craniofacial dysmorphisms, hypotonia, psychomotor developmental delay, mental retardation, ventricular septal defect, atrial septal defect, cryptorchidism and postaxial polydactyly of the fingers. A rudimentary poorly developed extra digit in the ulnar side of the fifth finger was observed in each hand. The present case adds to the literature of postaxial hexadactyly of the fingers in chromosome 9p deletion syndrome. We suggest that 9pter-p22 may contain genetic loci associated with human postaxial polydactyly.     

山西上党地区汉族肤纹研究

报道中国中原山西省上党地区汉族群体肤纹模式样本的参数。样本包括500名男性和500名女性。技术分类用《ADA标准-CDA版本》, 项目参数用《CDA标准》。分析了指纹总嵴线数(TFRC)、指三角a和b间嵴线数(a-bRC)、手掌轴三角t到指三角a和d角度(atd)、轴三角t百分距离(tPD)、指纹、指间纹、手大小鱼际、猿线、指三角等项目的二级模式样本。还分析了同名指指纹对应的情况,非随机组合的现象。山西东南部自古称为"上党", 地处黄河流域中下游广大的中原地带的中心区域,在远古时期就有原始人类聚集生息, 是中华民族发祥地之一, 是研究中原汉族肤纹参数的较具代表性地域。我们建立中原汉族肤纹的模式样本, 为体质人类学等学科研究提供较完整的资料。     

台湾闽南汉人肤纹学研究

本文报导台湾闽南汉人的肤纹参数,样本包括100名男性和100名女性。研究的项目有TFRC、a-b RC、atd、tPD、指纹、指间纹、手大小鱼际、猿线、指三角等,并且还分析了同名指指纹对应的情况,见到非随机组合的现象。这是对闽南汉人肤纹较详尽的调查,为人类学、遗传学和医学等提供了较完整的肤纹数据。     

A dermatoglyphic study of the Amis aboriginal population of Taiwan

Amis is the largest aboriginal population in Taiwan. The previous dermatoglyphic studies of the Amis only reported limited data. In this study, we collected and analyzed the dermatoglyphs of 200 Amis individuals, and we reported a wide range of dermatoglyphic variables including total finger ridge count, a-b ridge count, atd angle, axial triradius percent distance, and frequencies of fingerprint pattern, palmar thenar pattern, palmar interdigital pattern, and simian line. This study is the first comprehensive dermatoglyphic research of Amis since 1960s, and its dermatoglyphic data will be useful for future research in anthropology, genetics and medicine.     

In vivo evidence that BMP signaling is necessary for apoptosis in the mouse limb

To determine the role of Bone morphogenetic protein (BMP) signaling in murine limb development in vivo, the keratin 14 promoter was used to drive expression of the BMP antagonist Noggin in transgenic mice. Phosphorylation and nuclear translocation of Smad1/5 were dramatically reduced in limbs of the transgenic animals, confirming the inhibition of BMP signaling. These mice developed extensive limb soft tissue syndactyly and postaxial polydactyly. Apoptosis in the developing limb necrotic zones was reduced with incomplete regression of the interdigital tissue. The postaxial extra digit is also consistent with a role for BMPs in regulating apoptosis. Furthermore, there was persistent expression of Fgf8, suggesting a delay in the regression of the AER. However, Msx1 and Msx2 expression was unchanged in these transgenic mice, implying that induction of these genes is not essential for mediating BMP-induced interdigital apoptosis in mice. These abnormalities were rescued by coexpressing BMP4 under the same promoter in double transgenic mice, suggesting that the limb abnormalities are a direct effect of inhibiting BMP signaling.     

A dermatoglyphic study of the Amis aboriginal population of Taiwan

Amis is the largest aboriginal population in Taiwan. The previous dermatoglyphic studies of the Amis only reported limited data. In this study, we collected and analyzed the dermatoglyphs of 200 Amis in-dividuals, and we reported a wide range of dermatoglyphic variables including total finger ridge count, a-b ridge count, atd angle, axial triradius percent distance, and frequencies of fingerprint pattern, pal-mar thenar pattern, palmar interdigital pattern, and simian line. This study is the first comprehensive dermatoglyphic research of Amis since 1960s, and its dermatoglyphic data will be useful for future re-search in anthropology, genetics and medicine.     

Absence of triradius d in a three-generation pedigree and other variations of main-line D

An example is reported of a rare dermatoglyphic variant (absence of triradius d) in a woman of mixed European and Cherokee American Indian ancestry. This variant was not present in her parents, her five siblings, four nephews or one niece. Attention is drawn to the continuum from an absent triradius d to a triradius with an abbreviated main-line associated with either an open field in interdigital area IV, or a loop in interdigital area IV or a tented arch at d. This same continuum occurs at c. The absent triradius at d is extremely rare and the tented arch at d is very rare.     

海南岛黎族指、掌纹研究及临高人与汉族、壮族指、掌纹特征比较

本文描述了海南岛黎族和临高人的指、掌纹特征;应用聚类分析方法对临高人与汉族、壮族的指、掌纹特征进行了比较。作者认为:(1)黎族的个别掌纹特征表明存在着黎族与某些黑色人种混血的可能性;(2)黎族的四个支系中,(亻考)黎的指、掌纹特征最具有代表性;(3)临高人的指、掌纹特征与汉族类似而与壮族有着较大的差异。     

智力超常儿童的皮纹学分析

采用＜＜瑞文推理测验图册＞＞及＜＜韦氏儿童智力量表＞＞,在随机整群分层抽样测试２９０６名中,小学生的基础上,对检出的８４名智力超常儿童的皮纹学特征进行分析,结果表明：智力超常儿童Ｌ＾ｕ,Ｗ＾ｄ指纹出现率,ｂ－ｃ三叉间距,ｂ－ｃＴＲＣ,指纹白线、主线横线指数与对照组之间存在显著差异。     

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).     

Inhibitory effect on limb morphogenesis by cells of the polarizing zone coaggregated with pre- or postaxial wing bud mesoderm.

The influence of cells of the polarizing zone mesoderm on the morphogenesis of recombinant chick limbs was studied. The recombinant buds were composed of leg bud ectoderm and different regions of the wing bud mesoderm, which had been dissociated and reaggregated. In any case where the polarizing zone mesoderm was coaggregated with the wing mesoderm the morphogenetic capabilities of the recombinant were reduced. This was the case with postaxial mesoderm, preaxial mesoderm plus polarizing tissue, and postaxial mesoderm from which a piece of the nonpolarizing mesoderm (comparable in size to the polarizing zone) had been removed. All of these gave outgrowths with digits in only a very low percentage of cases. In contrast, those recombinants without polarizing mesoderm developed outgrowths with digits in a high percentage of cases, indicating good morphogenesis. Finally, if the polarizing zone were removed prior to dissociation, the recombinant limb, composed of the total remaining wing bud mesoderm plus leg bud ectoderm, exhibited a higher percentage of complete morphogenesis than if the polarizing zone had been part of the recombinant.It is clear that cells of the polarizing zone, when dissociated, and coaggregated with wing mesoderm, are inhibitory to the morphogenetic performance of that mesoderm in the recombinant limb situation.     

Dermatoglyphic changes in some human hereditary disorders: syndactyly]

The dermatoglyphic hand prints from 19 patients with different types of syndactyly were analysed. It was shown that some digital triradii and palmar lines were missing and replaced by only one triradius with common radiants and one main palmar line in patients with syndactyly. With fingers fused incompletely so called zygodactylous triradius and the main Z line may appear, instead of or alongside with them. It is proposed that the position of local cell death in the interdigital spaces is determined by positional information which is expressed in the system of polar coordinates.     

Dermatoglyphics in juvenile hypertension.

Dermatoglyphics of 172 children and young adults (116 males, 56 females) with hypertension, 13-27 years old, were compared with those of 130 healthy male and 110 female controls. Several differences were observed between the two groups. Hypertensive patients had a somewhat lower frequency of fingertip ulnar loops, higher frequency whorls and a higher total finger ridge count. They also had a somewhat higher mean atd angle, significantly more frequent distal position of the axial triradius (mostly in t' position) and more missing axial triradii compared to controls. The differences between a-b ridge counts, the interdigital, thenar and hypothenar patterns were generally small and sometimes limited to one sex or one hand only. The observed differences seem to indicate a genetic influence in the etiology of essential hypertension.     

Digital dermatoglyphics of Bulgarians from northeast Bulgaria

Digital dermatoglyphics were collected from 1,065 male and 1,065 female Bulgarians from northeast Bulgaria. None of the subjects had a diagnosed or suspected genetic or chronic disease of any kind. The fingerprints were classified by the 18-type system of Monique de Lestrange, modified to provide rapid and easy comparison with simpler classification systems. All the standard finger pattern indices were calculated. Certain modifications were introduced into the delta indices, it being borne in mind that each tented arch possesses a triradius and each complex (three-centered, accidental) whorl contains three triradii. A deltadiagram was constructed and its configuration was compared with those of some other populations. In addition, a new radioulnar index was proposed, representing a ratio between all the radial and all the ulnar patterns. The total, absolute, ulnar and radial finger ridge counts were calculated and their sample distributions were investigated. The dermatoglyphic features were evaluated and presented for each sex and each hand separately in order to investigate both the sex and bilateral differences. The set of data presented in this paper is a component of the physical anthropology of the general Bulgarian population. At the same time these data can be used as controls when analyzing the dermatoglyphic findings in Bulgarian patients with genetic diseases or congenital malformations.     

Palmar dermatoglyphics in mental retardation

Palmar dermatoglyphics has been studied in 86 mentally retarded males versus 50 normal males. The important findings in brief are as follows:

1. Frequency of patterns in descending order (all ten taken together) were ulnar loops followed by whorls, in both the groups.
2. Highly significant differences were found between the two groups in righ c-d, a-d, left a-b, a-d and vertical distance from a-d to the axial triradius, significant differences in left b-d, c-d and both distances from axial triradius to a vertical dropped proximally from triradius a.

The finding of this work has been compared with other authors. These findings give a base to classify mental retardation from the dermatoglyphic point of view, thus to help in diagnosis of the disease in newly born individuals.     

Dermatoglyphics of the relatives of children with congenital defects in development]

The localization of an axial triradius and the flexor creases were studied in 173 phenotypically normal mothers and 104 fathers of congenitally malformed children. The most pronounced changes ofdermatoglyphics were found in the parents of children with polygenic determined defects, less pronounced ones-- in the parents of children with multiple congenital non-chromosomal defects and with Down's syndrome. The frequency of the pathological features studied was similar both in children with polygenically determined isolated defects and with Down's syndrome. The frequency of the pathological determined isolated defects and in their parents. In multiple congenital defects and in Down's syndrome the abnormalities ofof the localization of an axial triradius and of the flexor creases were found in children more frequently than in the parents. It is suggested that the above mentioned peculiarities of parental dermatoglyphics may be useful for the genetic counsleling.     

Specific congenital heart defects in RSH/Smith-Lemli-Opitz syndrome: postulated involvement of the sonic hedgehog pathway in syndromes with postaxial polydactyly or heterotaxia

BACKGROUND

RSH/Smith‐Lemli‐Opitz syndrome is an autosomal recessive syndrome due to an inborn error of cholesterol metabolism and is characterized by developmental delay, facial anomalies, hypospadias, congenital heart defect (CHD), postaxial polydactyly, and 2–3 toe syndactyly. CHD is found in half of the propositi, and a specific association with atrioventricular canal defect (AVCD) and anomalous pulmonary venous return has been demonstrated.

METHODS

We report on an additional patient with RSH/SLOS presenting with complete AVCD and anomalous pulmonary venous return, and discuss the possible relationship of the Sonic Hedgehog (SHH) pathway as causative factor of these CHDs and those in heterotaxia patients with postaxial polydactyly syndromes.

RESULTS

Anatomic similarities between heterotaxia and CHDs of several syndromes with postaxial polydactyly have been noted previously, considering the frequent association of AVCD with common atrium in these conditions. It is known that both CHDs of heterotaxia and postaxial polydactyly can be related to abnormalities of the SHH pathway. Cholesterol has a critical role in the formation of normally active hedgehog proteins. It could be hypothesized that specific types of CHDs in RSH/SLOS can be caused by modifications of the SHH protein related to the defect of cholesterol biosynthesis.

CONCLUSIONS

The specific association of AVCD and anomalous pulmonary venous return in patients with RSH/SLOS and the finding of AVCD ± common atrium in several syndromes with polydactyly leads to the hypothesis that heterotaxia due to SHH anomalies could be involved in a large spectrum of conditions. Perturbations in different components of the SHH pathway could lead to several developmental errors presenting with partially overlapping clinical manifestations. Birth Defects Research (Part A) 67149–153, 2003. © 2003 Wiley‐Liss, Inc.