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A case of "G2 Deletion Syndrome" is reported, based on concordant cytogenetic, clinical and dermatoglyphic findings. The definition if the syndrome, as associated with either a ring or a partially deleted chromosome 22, is discussed. The resulting interpretation favours the hypotheses of deletion of the short arm extending into the centromere.
Tabby (Ta), a murine X-linked mutant gene, produces a syndrome of ectodermal dysplasia including anhidrosis (absence of sweat glands). Development of sweat glands is related to that of dermal ridges (dermatoglyphics) and abnormal ridges may be associated with absence of sweat glands in the human syndrome of hypohidrotic ectodermal dysplasia (HED). We have found that dermal ridges occur in normal mice but are lacking in Ta mutants. Previously we showed that epidermal growth factor (EGF) reverses delayed eyelid opening and incisor eruption in Ta mice. We now report that EGF induces development of dermal ridges and functional sweat glands in Ta/Y hemizygotes, indicating a role in mammalian morphogenesis. Ta seems to be genetically homologous to human X-linked HED, as Ta maps close to loci homologous to linkage markers of HED and the two syndromes share many traits, including absence of all or most sweat glands. Absence of these glands causes hyperpyrexia, a clinical emergency in infants with HED; reversal of the trait in the mouse homologue of the disease indicates that an important genetically determined congenital defect in humans may become treatable.
Tripe palms are thickened, moss-like or velvety textured exaggerations of the normal dermatoglyphics. The disease belongs to the spectrum of papulosquamous paraneoplastic syndromes. Although suspected, the role of transforming growth factor-alpha (TGF-alpha) has not been clearly established. A 54-year-old man with systemic mastocytosis presented with thickening and darkening of the palms and soles. We performed skin biopsies for light microscopy (including toluidine blue), in situ hybridization and double labelling, and determination of serum tryptase, histamine and TGF-alpha levels. Toluidine blue stained the mast cells that had massively infiltrated the dermis. Tripe palm samples showed extensive hyperkeratosis. The TGF-alpha probe reacted strongly with the mast cells that also reacted with the antitryptase monoclonal antibody. Elevated tryptase, histamine and TGF-alpha levels prior to interferon-alfa administration decreased under treatment. The demonstration of TGF-alpha in infiltrating mast cells, the clinical regression of tripe palms and the lowering of the serum level and the mast cell molecular signal of the cytokine when systemic mastocytosis was controlled by interferon-alfa, suggest a key role for TGF-alpha in this cutaneous paraneoplastic syndrome.
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.
In a sample of 539 Polish families, 1000 individuals (515 males and 485 females) were analysed to determine the distribution of whorl patterns on specific fingertips, to compare their frequencies in males and females, and to determine whether asymmetry of these dermatoglyphic pattern elements is genetically controlled. Whorls occur most commonly on digit VI on both hands and in both sexes. The difference between males and females for mean values of occurrence is not significant. Using the bimanual difference between hands (right minus left), the digital asymmetry was determined, and correlations with asymmetrical occurrence of whorls was made between parents and children, and between sibs, in all combinations. In each case, there was a positive correlation pairs of relatives, demonstrating a genetic component in whorl determination and their asymmetrical occurrence.
Previous attempts to isolate major gene effects in digital dermatoglyphics have been approached from two main directions. One has been concerned with analysing the components of total ridge count (TRC) distributions and examining various parameters of these distributions. The other has concentrated on the inheritance of various combinations of digital patterns. This study is primarily concerned with the shape of TRC and digital ridge count distributions. It suggests that a major gene effect may be as conspicuous in the distributions of digital counts as it is in TRC if these are viewed from the standpoint of global variation. The relationship between mean TRC, the standard deviation of TRC, skewness and kurtosis is examined and the results are compared with those obtained from a simple major locus model in which the overall distribution of TRC is composed of three overlapping normal distributions. As predicted by the model there is a negative correlation between mean TRC and its standard deviation, also a positive correlation with kurtosis. The expected relationship between mean TRC and skewness is non-linear, taking the form of an asymmetric U-shaped curve. There is evidence that the relationship between mean TRC and g1 in population samples covering a wide range of mean total ridge count follows this trend. The concordance between the predicted relationships and the observed frequency distributions is taken as evidence in favour of a single major locus hypothesis.
Tactile sensitivity has been measured in 101 normal individuals (38 females and 63 males) of European origin, and compared with ridge pattern characteristics of the fourth fingertip of the right hand. There is a relationship of tactile sensitivity performance with the type of pattern, particularly in females, and also with the number of junctions within the pattern, particularly in males. The possible origin of sex differences in tactile sensitivity and in its relationships with dermatoglyphic variables is discussed. In spite of sex differences, optimal tactile sensitivity performance seems to be associated with medium-sized loop patterns which have a greater number of junctions than ends and also have grooves wider than ridges. The possible evolutionary significance of these associations is discussed in relation to evidence for epistatic genetic variation for pattern intensity.
The four endogamous groups of fishermen living around the city of Puri, located on the eastern coast of India, were studied for blood groups, red cell enzymes and serum proteins (11 loci). Only 1.3% of the total diversity among the groups studied is due to differences between them (GST = 0.013). The genetic distances between populations were estimated using Edwards and Cavalli-Sforza's method. The pattern of genetic distance reflects the geographical distribution of these groups. In general, these observations support the patterns of variation based on anthropometric and dermatoglyphic variables.
Inbreeding coefficients are reported for all members of the isolated Havasupai tribe of northern Arizona (USA), based upon pedigrees which are as deep as eight generations. Because inbreeding has been repeatedly shown to reduce developmental homeostasis in a large number of species, we ask if the degree of inbreeding in the Havasupai is associated with reduced developmental stability. Fluctuating asymmetry in two dermatoglyphic traits suggests that inbreeding significantly compromises developmental homeostasis in this population.
The magnitude of ridge-count variation and its spatial and linguistic patterning was examined using 82 male and 75 female samples from Europe. Variables were summary measures: sum of radial counts (radial) sum of ulnar counts (ulnar) and sum of larger counts (total ridge-count or TRC). Dermatoglyphic parameters were compared with those derived from classic nuclear gene markers. Fst values computed from ridge-counts range between 0.016 and 0.025, relatively high when compared to classical genetic polymorphism. Ridge-count distances show significant correlation with geographic distances but not with linguistic distances. Ridge-count distances show even higher correlation with blood marker distances, suggesting that, like blood polymorphisms, ridge-counts were strongly influenced by demic expansion of Neolithic farmers. The most differentiated populations in Europe are those of the North Atlantic and North Sea region, especially the Orcadians and Faroe Islanders. Certain Finnic speakers such as Lapps and Udmurts are also strongly differentiated. These same populations are frequent outliers in genetic analyses.
Studies of multifactorial inheritance in man have ignored nonadditive gene action or attributed it entirely to dominance. Reanalyses of dermatoglyphic data on monozygotic and dizygotic twins, siblings and parents and offspring suggest that a substantial proportion of variation in total finger pattern intensity is due to epistatic interactions between additive genetic deviations, not dominance. Bootstrapping and power simulations support this interpretation of the data. We believe this is the strongest evidence so far for polygenic epistasis in man.
The neurodevelopmental hypothesis of schizophrenia is currently a primary etiopathological model for schizophrenia. Its tenets derive from observations of epidemiological, postmortem, and brain imaging evidence of neurodevelopmental deviance. Clinical stigmata of neurodevelopmental arrest include the presence of obstetric complications, minor physical anomalies, abnormal dermatoglyphics, and childhood neuromotor precursors of adult schizophrenic illness. The relative importance of these stigmata and their relationship to brain imaging findings in schizophrenia are discussed.
STUDY DESIGN: Statistical analysis of maturity and asymmetry criteria in adolescent idiopathic scoliosis. OBJECTIVES: To explore the hypothesis that scoliosis is a manifestation of developmental destabilization under physiologic stress. BACKGROUND: Advances in genetics and theoretical biology have broadened the understanding of morphogenesis and the controlling mechanisms for the development of the adult form. The morphologic genome can be viewed as a cybernetic control system, and the homeobox genes can be viewed as the master controls for the specific subroutines. Deformity will occur from a faulty "program" or a disturbance in the running of that program. An early and subtle indication of such an occurrence is failure of bilateral symmetry. METHODS: An analysis of variance in Cobb angle, age at diagnosis, and apical site in 327 girls with spinal curves 5 degrees or greater according to prospectively maintained scoliosis screening records was performed. Dermatoglyphics were compared in 114 female control individuals and 164 female patients with adolescent idiopathic scoliosis (minimum Cobb angle, 10 degrees), and then by subdivision into school screening (n = 86) and general clinic referrals (n = 78). RESULTS: Girls from the screening program (from the years 1979-1990) had statistically significant associations between age and apical vertebra, suggesting an age-deformity relationship independent of maturation and growth spurt. Girls with adolescent idiopathic scoliosis from a later cohort, both screened and unscreened, had increased directional asymmetry, as previously reported. There was a statistically significant increase in fluctuating asymmetry in general clinic referrals when compared with school screening referrals. CONCLUSIONS: Developmental instability can explain adolescent idiopathic scoliosis as part of wider developmental theory without the necessity of a disease process in the etiology. The differences between screening and general clinic referrals suggest the need for natural history studies, and treatment protocols also should consider the provenance of the individuals described.
An apparently hitherto undescribed ectodermal dysplasia/malformation syndrome is presented. The patient, the last son in an outbred sibship of four males, presents scalp hypotrichosis, aplasia cutis congenita of the scalp, dental abnormalities, onychodyplasia, dry skin with hypochromic and atrophic (poikiloderma-like) spots with vicarious (marginal) hyperchromia, unusual facies, asymmetrical skull, absent right nipple, irregular areolae, palmar keratosis, dermatoglyphic alterations, syndactyly, clinodactyly, phalangeal aplasias and hypoplasias, right leukoma, abnormal EEG, and other findings. The aetiology is unknown. A review of seventeen ectodermal dysplasias is presented for different diagnosis.
A small thirty-eight-year-old profoundly retarded woman is decribed who has a ring chromosome identified by banding techniques. Details are given of her behaviour, anthropometry, dermatoglyphics, karyotype and biochemistry with extensive investigations of her blood proteins and enzymes. Other described cases of ring 21 and 22 are reviewed. There is so much variability among the ring 22 chromosomes that it is not considered justifiable to speak of a ring 22 syndrome.
A new case of the Borjeson-Forssman-Lehmann syndrome is described with details of anthropometry, dermatoglyphs, endocrine function studies and mental state. Comparisons are made with the five previously reported cases. The diagnosis is based on the clinical appearance. Endocrine studies gave normal results and the patient's short stature is not due to growth hormone deficiency. There is no evidence for primary hypogonadism.
A case of a mentally handicapped female with unbalanced form of translocation deletion between chromosomes 6 and 22 is reported. Clinical features, mental disorder and abnormal dermatoglyphs of the propositus are described.
The cytogenic study is reported of a female infant affected with several malformations and presenting a mosaicism of the type 47,XX,+8/46,XX in her karyotype. G-band analysis and the distribution curves of these bands were studied in order to obtain a more objective identification of trisomy 8. Results of Q-banding, X-chromatin and dermatoglyphic studies are given and compared with previous reports.