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We report on a patient with sensorineural deafness, onycho- and osteodystrophy and mental retardation (DOOR syndrome) and review the literature. It appears that abnormal dermatoglyphics are a frequent feature of the DOOR syndrome, as all patients with DOOR syndrome in whom dermatoglyphic investigations were done, had multiple arches on their fingertips.
The authors report on the 7th case of "de novo" 7p trisomy [46,XY,dup (7) (p15-pter)], followed during 6-and-a-half years. Through literature review, examination of pictures and dermatoglyphics, they try to contribute to the further definition of this multiple congenital anomaly syndrome. This entity, although several lengths of duplicated fragment or mosaicism, is characterized by high and large forehead flattened at the centre due to the abnormally large and persistent gaping anterior fontanel and sagittal (metopic sutures, consequent hypertelorism and broad nasal bridge, cutis laxa, often denounced by folded neck, joint and cardiovascular anomalies, psychomotor delay and a possible typical dermatoglyphic pattern. The phenotypic pattern seems to be similar in all the patients, although the association of anomalies appears to be correlated to the extension of the duplicated fragments.
BACKGROUND: Abnormal dermatoglyphs on human volar skin have been reported in many syndromes, but little is known about the pathogenesis. Patterns of pads on rodent limb volar skin are homologous to human dermatoglyphs. METHODS: In previous studies, we showed that transplacental exposure to teratogens induced abnormal pads in mouse fetuses. Moreover, teratogens caused abnormal pad patterns at levels below those that caused skeletal malformations. In this study, we examined morphology and cytokinetics in developing abnormal pads. Pregnant mice were treated with all-trans-retinoic acid at 20 mg/kg orally at embryonal day (E) 12.5 (vaginal plug = E0). The hindlimbs of the embryos were harvested and observed under a light microscope and by scanning electron microscopy. Cell proliferation and cell death were estimated by 5-bromo-2'-deoxyuridine (BrdU) labeling, Nile blue A vital staining, and terminal deoxynucleotidyl transferase-mediated dUTP nick end labeling (TUNEL). RESULTS: Retinoic acid induced aplasia of the fibular tarsal pad and supernumerary interdigital pads on hindlimbs. Cell proliferation was observed in the area of developing pad, but cell death was very rarely seen in either normal or abnormal pads. CONCLUSIONS: Retinoic acid disturbed pad patterning as a whole rather than individual pad formation.
This study reviews the development of a medical genetics research tradition in Toronto, Canada. This research tradition, what I call the "Ford Walker school," was forged in the 1930s in an iconoclastic mold. It was female-dominated in an era when leading-edge science was definitely not "women's work." It emerged in a leading research university, but in a country that lagged in the sciences. These social relations of gender and nation symbolized and sustained a marginality that was reinforced by the substantive concerns of members of this research school. They adopted a service orientation toward medicine, were sympathetic to heterodox approaches to genetic and medical science, and were principally reliant on a marginal research tool-dermatoglyphics. Despite this marginality, Norma Ford Walker was among the founding members of the institutions of human and medical genetics in North America in the postwar period. She forged a research tradition that served as the basis for further developments in medical genetics in Toronto and educated a generation of students, many of them women, who went on to populate and then institutionalize the growing science and practice of medical genetics in Canada. The heterodox approach of the early Ford Walker school was displaced as the field grew in the postwar period. Yet many members of the research school retained dermatoglyphic technique and used it to contribute to progress in medical cytogenetics. In this article, I explore why the history of this marginal research school is important.
This study addresses the comparative genetic interrelationships between South African Negro groups. For this the genetic distances between seven ethnically defined Negro subsamples (total of 998 individuals) based on 24 genetic loci/polymorphisms are calculated by applying standard distance formulae. These computations offer an opportunity to evaluate the different polymorphisms in terms of their effects on the genetic distances. The genetic interrelationships thus computed are illustrated by way of dendrograms and are discussed in terms of their comparative significance. It follows from the findings that the Ndebele, Northern Sotho (Pedi), and Tswana form a closely related subcluster and that the Zulu and Swazi as well as the Venda and Shangana-Tsonga form two additional, more distant, subclusters. These results are discussed and tentatively interpreted against the background of the reported Khoisan admixture of the populations concerned as well as their ethnological history. The data are also compared to those derived from metric and dermatoglyphic studies. It is concluded that whereas there is some agreement between these categories of variation (genetic, metric, and dermatoglyphic) as far as the comparative evaluation of South African Negro groups is concerned, there also are discrepancies. These conclusions need to be explained in terms of evolutionary mechanisms (such as historic origins, hybridization, natural selection, and genetic drift) in order to obtain a more consistent and comprehensive comparative picture of the physical anthropology of southern African populations.
Anthropological studies of human population structure commonly compare various monogenic and polygenic (metric) distance matrices to distance matrices obtained from measures of geographical dispersion, linguistic differences, and migration patterns in an attempt to infer something about the effects of evolutionary factors (drift and differential selection, in particular). It is, though, commonly recognized that geography, language, and migration patterns may be intercorrelated due to the common effects of historical and social processes. Previous attempts to deal with the problems of assessing relative effects among such sets of intercorrelated factors using partial correlations have resulted in coefficients that are either not well defined or have no known sampling distribution or both. Here, we outline a general approach to partialling distance matrices that results in well-defined coefficients and valid significance testing procedures. Application of the matrix partialling methods to a variety of distance matrices obtained for a sample of eight ethnolinguistic groups from the Harvard Solomon Islands Expedition (Friedlaender et al., 1986) reveals a close association between language dissimilarity and dermatoglyphics controlling for geography, thus reinforcing earlier suggestions that dermatoglyphics, properly used, reflect historical relationships of groups in this region better than do anthropometry, odontometrics, or small batteries of blood polymorphisms.
The cardinal features of Kabuki (Niikawa-Kuroki) syndrome (KS) include characteristic facial dysmorphic features, mild to moderate mental deficiency, skeletal abnormalities, dermatoglyphic abnormalities, and postnatal growth retardation. We identified 8 patients with KS in a genetics clinic over the past 5 years. All were Caucasians, except for 2 who were of mixed Aboriginal and Caucasian descent. All had the facial gestalt, the dermatoglyphic abnormalities characteristic of the syndrome, and developmental delay. Dental abnormalities of permanent teeth were seen in all 8 cases; 6 had missing lower incisors. Five patients had uniquely abnormal upper incisor teeth shape; the upper incisors had a 'flat head' screwdriver-shaped appearance. Other dental abnormalities included missing lower lateral incisors, missing second premolars, and ectopic upper 6-year molars. We believe the presence of the unique dental findings will prove useful in the diagnostic assessment of individuals with KS.
Melanocytic nevi of palms and soles (MNPS) cause diagnostic problems to dermatopathologists because they share histologic features with malignant melanoma (MM). Early MNPS frequently display a striate appearance, suggesting that, in this subset of nevi, both melanocytes and melanin might have a particular distribution in relation to dermatoglyphics. To verify this hypothesis, we undertook a histological study on 78 junctional MNPS sampled along a plane either perpendicular or parallel to dermatoglyphics. Histologic examination revealed symmetry in 56% of the lesions, circumscription in 60%, intraepidermal scatter of melanocytes in 79%, and melanin columns in 61%. Interestingly, comparison between histologic features of nevi sampled perpendicularly and those of nevi cut parallely to dematoglyphics showed that features of benignity, namely symmetry, circumscription and melanin columns, were significantly more frequent in lesions dissected along a perpendicular plane. Moreover, in 70% of perpendicular samples, intraepidermal scatter of melanocytes and melanin columns were strictly concentrated in furrows. Therefore, to avoid diagnostic pitfalls in the differentiation between junctional MNPS and MM, we strongly suggest to dissect MNPS along a plane perpendicular to skin markings. We hypothesize that mechanical stress can be responsible for concentration of intraepidermal scatter of melanocytes and melanin columns in skin furrows.
Down syndrome (DS) is a major cause of mental retardation and heart disease. Although it is usually caused by the presence of an extra chromosome 21, a subset of the diagnostic features may be caused by the presence of only band 21q22. We now present evidence that significantly narrows the chromosomal region responsible for several of the phenotypic features of DS. We report a molecular and cytogenetic analysis of a three-generation family containing four individuals with clinical DS as manifested by the characteristic facial appearance, endocardial cushion defect, mental retardation, and probably dermatoglyphic changes. Autoradiograms of quantitative Southern blots of DNAs from two affected sisters, their carrier father, and a normal control were analyzed after hybridization with two to six unique DNA sequences regionally mapped on chromosome 21. These include cDNA probes for the genes for CuZn-superoxide dismutase (SOD1) mapping in 21q22.1 and for the amyloid precursor protein (APP) mapping in 21q11.2-21.05, in addition to six probes for single-copy sequences: D21S46 in 21q11.2-21.05, D21S47 and SF57 in 21q22.1-22.3, and D21S39, D21S42, and D21S43 in 21q22.3. All sequences located in 21q22.3 were present in three copies in the affected individuals, whereas those located proximal to this region were present in only two copies. In the carrier father, all DNA sequences were present in only two copies. Cytogenetic analysis of affected individuals employing R and G banding of prometaphase preparations combined with in situ hybridization revealed a translocation of the region from very distal 21q22.1 to 21qter to chromosome 4q. Except for a possible phenotypic contribution from the deletion of chromosome band 4q35, these data provide a molecular definition of the minimal region of chromosome 21 which, when duplicated, generates the facial features, heart defect, a component of the mental retardation, and probably several of the dermatoglyphic changes of DS. This region may include parts of bands 21q22.2 and 21q22.3, but it must exclude the genes S0D1 and APP and most of band 21q22.1, specifically the region defined by S0D1, SF57 and D21S47.
Examinations of 70 patients with keeled deformation of the chest (KDC) have revealed signs of connective tissue dysplasia in all the examinees, as well as heart rhythm and conduction disorders. Echography has shown ventricular and atrial septal defects, mitral valve prolapse, dilatation of the aortic root, tricuspidal valve prolapse, abnormally located chorda. The development of KDC in the presence of external connective tissue stigmata, involvement of the cardiovascular system, changed dermatoglyphic pattern of the palms and fingers (as evidenced by dermatoglyphic analysis), as well as findings of histologic examinations of the cartilage removed in the course of thoracoplasty may indicate a generalized abnormality of the connective tissue in this patient population and KDC may be regarded as one of its manifestations.
In July-November, 1986, Saryupari Brahmins of Chhattisgarh (Central India) have been investigated for the distribution of ABO blood groups, Rh factor, ABH secretion, PTC taste sensitivity and seven morphological traits. The important findings in brief are as follows: 1. The frequency of O blood group is slightly dominant (38.91%) and gene frequency exhibit r > q > p pattern. Statistical analysis (D/sigma = 0.5447) show that the population is in genetic equilibrium. 2. Estimation of the expected rate of erythroblastosis foetalis occurred in this population is calculated to be 8-16 cases in every 10,000 pregnancies. 3. High incidence (53.82%) of non-secretors of ABH substances in saliva suggest that this group may belong to Caucasoid stock. 4. The ability to taste the chemical PTC has a high frequency (61.81%) in this group. 5. R/L type of handclasping (58.15%), leg folding (65.38%) and L/R type of arm folding (58.93%) is dominant. L-type of handedness (5.48%) is moderately high. 6. Tongue rollers (93.28%) and folders (53.77%) are more among them. 7. Free type of ear lobe (68.68%) is the common feature in this population. 8. The above observations were compared in details with other Brahmin populations reported from India with special reference to the descendant groups residing in Madhya Pradesh (Central India). Furthermore, the results obtained on growth studies, and dermatoglyphic studies (palm and sole) from our published literature were also included so as to have some idea on the genetical, behavioural, dermatoglyphic and growth norms of this group.
Fingerprint dermatoglyphic patterns in 50 patients with presumed senile dementia of the Alzheimer type (SDAT) were compared with a control group of 50 patients with other neurologic diseases and with population norms. Patients with SDAT showed a significantly increased frequency of ulnar loops on their fingertips and a concomitantly decreased frequency of whorls and arches. A pattern of eight or more ulnar loops was found significantly more often in patients with SDAT (72%) than in the control group (26%). Fourteen patients with SDAT had ulnar loops on all ten fingers; this occurred in four patients in the control group. Radial loops on the fourth and fifth digits were more prevalent in patients with SDAT. The fingerprint patterns observed in patients with SDAT are congruent with patterns repeatedly found in Down's syndrome, and support the known associations between these two diseases at a further level.
Attention deficit/hyperactivity disorder (AD/HD) represents a developmental lag that may be reflected in fluctuating asymmetry (FA), i.e., differences from perfect symmetry in traits that display bilateral symmetry. Burton et al. (2003 Am. J. Hum. Biol. 15:601-619) found a statistical trend for FA to increase (as dermatoglyphic index or as total index) as the behavioral measure for AD/HDness (Rasch logit values derived from the Wender Utah Rating Scale, or WURS) increased in males but not in females. The objective here was to do a similar study in an independently collected sample of college students (n = 222; 61 male, 161 female) not selected for AD/HD, looking at FA vs. symptoms for AD/HD based on Rasch versions of responses to the Diagnostic and Statistical Manual of Mental Disorders (DSM IV) (Barkley and Murphy 1998 Attention-Deficit Hyperactivity Disorder, New York: Guilford Press, p. 95-96) and the more comparable shortened WURS. FAs were lowest for body and ear height, and highest for eye width and nose width, and ranged from 0.01 +/- 0.001 (mean +/- SE) for foot and ankle widths to 0.13 +/- 0.01 in eye and nose widths for both sexes; the sexes did not differ significantly. Males displayed higher AD/HD symptom rates overall. There was a significant correlation between body FA and the WURS measure in females after Bonferroni correction (P = 0.002, r(2) = 0.058). Thus, AD/HD symptoms levels increased with an increase in body FA in female college students not selected for AD/HD.
To determine the effects, if any, of chorion type on normal and abnormal developmental variation in monozygous (MZ) twins, we tested the hypothesis that disparate environments that are related to chorion type have no effect on this variation. The parameters studied included congenital anomalies and dermatoglyphics (total ridge count and right-left asymmetry). With the exception of total ridge count, analyses of these data failed to reject the null hypothesis. Dichorionic MZ twins had a significantly greater within-pair variation than monochorionic MZ twins for total ridge count. In summary, then, these data could offer little support to prior speculation that monochorial placenta may present less favorable environments for feta development.
Two brothers with hallux varus of both feet are reported. One brother also had duplication/triplication of the great toes. The parents had no skeletal abnormalities or abnormalities of dermatoglyphics.
We report the familial occurrence in a French Canadian family of peptic ulcer/hiatal hernia, multiple lentigines/café-au-lait spots, apparent hypertelorism, and myopia caused by a pleiotropic autosomal dominant gene with high penetrance and variable expressivity. Other probable but rarer components of the syndrome include ischemic heart disease, congenital heart disease, and maturity onset diabetes. Symptoms of peptic ulcer/hiatal hernia usually started in the second or third decade and were associated, as least in some examined individuals, with relatively increased acid secretion and abnormal dermatoglyphics.
We report a mother and three of her four children with type V syndactyly. All the patients had metacarpal 4-5 fusion. The other hand anomalies consisted of abnormal origin of the fifth fingers, anomalies of digits 4 and 5, brachydactyly, syndactyly, camptodactyly, absent distal interphalangeal creases, and unusual palmar dermatoglyphics. Anomalies of the feet consisted of varus deviation of the metatarsals, valgus deviation of the toes, hyperplasia of the first ray, and hypoplasia of the third to fifth rays. None of the patients had metatarsal fusions. The anomalies were similar in the mother and her two older sons far less severe in her daughter. This daughter also had a congenital anomaly of the urinary tract. Anomalous and/or defective muscle and tendon insertions were demonstrated in one patient during an operation. Syndactyly V is transmitted as an autosomal dominant trait.
We report the familial occurrence in a French Canadian family of metaphyseal dysplasia associated to short stature and previously undescribed facial and acral anomalies. Facial manifestations include beaked nose, short philtrum, thin lips, maxillary hypoplasia, dystrophic yellowish teeth. Acral changes include bilateral shortness of metacarpal 5 and/or 2nd middle phalanx of fingers 2 and 5. Dermatoglyphics show low TRC, distal or absent axial triradius, absent triradius C, and radial loop on digit 4. The syndrome appears to be an autosomal dominant trait.