Dermatoglyphs in carriers of a balanced 15;21 translocation.

Cytogenetic and dermatoglyphic features were studied in a large family with an inherited 15;21 translocation. Of 35 healthy members of the family, 21 carried the translocation chromosome and 14 were chromosomally normal. There were six members with Down's syndrome who had the translocation. Dermatoglyphic studies showed that carriers of this balanced translocation had the following peculiarities significantly more often than the general population. On the hands, they had ulnar loops on the fingertips, symmetrical high terminations of the A line, symmetrical ulnar loops on the hypothenar areas, distal loops in the 3rd interdigital areas, open fields in the 4th interdigital areas, axial triradii in the distal position, and single transverse palmar creases (Sydney lines). On the feet, they had small distal loops on the hallucal area and distal loops in the 4th interdigital areas. The translocation carriers also had significantly more often than non-carrier relatives symmetrical high terminations of the A line, open fields in the 4th interdigital areas, distal axial triradii, and Sydney lines. On the feet, they had small distal loops on the hallucal areas, distal loops in the 4th interdigital areas, and tibial loops on the proximal hypothenar areas. The data obtained from this study, and especially the values of the Walker and general indices, indicate that some of the dermatoglyphic stigmata of Down's syndrome are directly associated with the 15;21 translocation carrier state and can therefore be used for predicting that state.     

Dermatoglyphic peculiarities in patients with Williams-Beuren syndrome

The dermatoglyphic patterns of fingertips and palms of 115 patients with Williams-Beuren syndrome (WBS) were analysed and compared with the data from 199 control individuals from Germany. The following combination of dermatoglyphic patterns appears to be characteristic to WBS: an excess of whorls on all fingertips; high termination values of the main lines D, B, and A; frequent absence of C triradius (C°); high frequencies of ulnar loops on the hypothenar and distal loops on the 2nd, 3rd, and 4th inter digital areas, of distal axial triradii t", and of abnormal palmar creases such as simian crease and Sydney lines. The combination of fingertip and palmar patterns expressed by a “Log.Score-Index,” provides a high degree of discrimination between the WBS patients (92%) and the control group (88%). A “phantom picture” for WBS was constructed, which can be used for its diagnosis. © 1994 Wiley-Liss, Inc.     

Genetics of dermatoglyphic patterns on palms

Genetics of palmar dermatoglyphics have been investigated on the basis of a topological classification of dermal ridge patterns. A study was undertaken in a sample of 201 Polish families, comprising 187 pairs of parents and 666 children. Correlational analysis was performed using an IBM computer. The first step was to establish frequencies of dermatoglyphic characters in the sample and anatomical correlations between various patterns on palms and finger tips. Then, correlation coefficients between relatives were calculated for eighteen dermatoglyphic characters. Further genetical analysis of the data was performed, including estimates of heritability index (h²), dominance-recessivity index (dr)2 and search for the possible influence of sex-linked genes. The results obtained show that the dermatoglyphic characters on palms vary considerably with respect to the proportions of genetical and environmental components; some of them, like hypothenar H loop, interdigital loop II and triradius t and some quantitative characters, like pattern intensity, have high heritability indices, while the others, like hypothenar distal loop H, radial hypothenar loop H^r or z triradii, are almost entirely determined by environmental influences. It was further possible to examine the mode of inheritance of some of the pattern elements. It can be assumed, on a basis of results so far obtained, that some dermatoglyphic characters like loops ? and II and presence of triradius t may be determined mainly by single genes those for the loops being in homozygous recessive form.     

The dermatoglyphic pattern of the Kabuki make-up syndrome

Dermatoglyphic analyses of 12 patients with the newly recognized Kabuki make-up syndrome revealed a combination of unusual dermatoglyphic patterns. They included frequent fingertip ulnar loop patterns (72%), the absence of digital triradius c or d (25%), an interdigital triradius bc or cd (33%), hypothenar loop patterns (67%), and ulnar loop patterns in the fourth interdigital area (17%). Other unusual findings included persistence of fingertip pads (58%), a single flexion crease of the fourth or fifth finger (25%), and an excess of minor flexion creases of the palm (92%).     

Dermatoglyphic peculiarities in families with X-linked mental retardation and fragile site Xq27: a collaborative study

The dermatoglyphic patterns of fingertips, palms and soles of 75 male patients with X-linked mental retardation and fra-Xq27 and of 28 obligate female heterozygotes were analyzed and compared with the data from 200 male and 200 female control individuals. The results show that there is a strong association between the fra-X-syndrome and dermatoglyphic peculiarities observed in male patients and also in female heterozygotes. The characteristic dermatoglyphic features of the fra-X-syndrome are: increased frequencies of radial loops, whorls and arches on the fingertips, a pronounced transversal course of palmar ridges, lower a-b RC, absence of c-triradii on the palms, abnormal palmar and plantar creases, dysplasia of the papillary ridges and low frequencies of true patterns on the soles. Some of these patterns were found in the female carriers of fra-Xq27 also. The combination of palmar and plantar patterns, expressed by a "log. score-Index", provides a high degree of discrimination between the male patients with fra-X-syndrome and the control group. A preliminary log. score-Index was developed also for the female heterozygotes. A "phantom picture" of the dermatoglyphic stigmata is constructed. We suggest that dermatoglyphic examination of the members of families suspected for fra-Xq27-syndrome can be useful for predicting this state and for diagnosing male hemizygotes and carrier females.     

Dermatoglyphic and cytogenetic studies in parents of children with trisomy 21

Dermatoglyphic studies were carried out of 131 mothers and 95 fathers of children with Down syndrome and 200 controls (100 males and 100 females) using the Hopkins single score method. Twelve percent of the mothers and 2% of the fathers showed dermatoglyphic abnormalities including a distal axial triradius (t"), hypothenar ulnar loops, radial loops on digits IV and V and abnormal palmar creases, resulting in a positive Hopkins score or a score in the "overlapping range" (greater than -3). The origin of the extra chromosome could be determined in 23 of a total group of 40 families. In 22 of the former, the mother was the donor of the extra chromosome; in one it was the father, In these 23 families, a Hopkins score in the overlapping range was found in three mothers who were all under the age of 35 years at the birth of the affected child. Since cytogenetic studies cannot easily differentiate between meiotic nondisjunction and mosaicism as a basis for 21 trisomy in the progeny, it is possible that mothers with positive overlapping Hopkins scores represent undetected mosaics for a trisomic cell line. The dual approach utilizing dermatoglyphic and cytogenetic studies may aid in identifying persons with an enhanced risk for having children with Down syndrome.     

Dermatoglyphic profile in 22q deletion syndrome.

A genetic subtype of schizophrenia has been described in 22q11 Deletion syndrome. Previous studies have described an excess of dermatoglyphic alterations in schizophrenia, such as low a-b ridge counts (ABRCs), a high frequency of ridge dissociations, and increased dermatoglyphic fluctuating asymmetry. Little is known however, about the dermatoglyphic profile of 22qDS subjects showing psychotic symptoms and its similarity to the previously reported anomalies in schizophrenia. We studied the palmar dermatoglyphics of 22 subjects with 22qDS of predominantly Caucasian origin, 15 of whom had psychotic illness, and in 84 healthy controls of similar ethnicity. We observed higher values for total ATD angle in cases than in controls (P = 0.04). In addition, there was an excess of radial figures in the hypothenar area in cases, especially in the left hand. Interestingly, greater fluctuating asymmetry, determined by the absolute difference between right and left ABRC, was observed in 22qDS subjects compared to controls (P = 0.05). However, no differences were found for ABRCs and frequency of dissociations. Despite the small sample size, the palmprints analyzed suggest the existence of an altered dermatoglyphic profile in 22qDS, involving: (i) ATD angle amplitude, (ii) presence of radial loops in the hypothenar area, and (iii) an increment of fluctuating asymmetry. The first two features are similar to those found in other genetic syndromes associated with low IQ, while high levels of fluctuating asymmetry have often been reported in schizophrenia.     

A Study of Dermatoglyphic Patterns in Epileptic Patients

The aim of study was to establish a relation of dermatoglyphic patterns of palm in epileptic and normal subjects so that it may be used as a diagnostic tool for identifying cases at risk. The dermatoglyphic study was carried out on 50 patients of epilepsy and 50 normal subjects. The dermatoglyphic traits, which presented a significant difference, were a-b ridge count, lateral deviation, c-line pattern, palmar pattern and finger tip pattern. Mean values of a-b ridge count were more in epileptic patients, especially in left hand, than controls. The ratio of ulnar and radial lateral deviation in control was 1:3 while in epileptic it was 1:5. C-line pattern presented less frequency of proximal and ulnar type patterns in cases. Radial type of C-line pattern was higher in cases. On the other hand this pattern was absent in 29% of controls than cases (8%). Arch type of palmar patterns were showing a very significant difference between controls (79%) and cases (2%). Frequency of loops were much more and vestiges were absolutely absent in cases. The frequency of Arch type of finger tip pattern was more in control. These findings suggest that antenatal factors may contribute to the etiology of epilepsy. A considerable progress in dermatoglyphics has been established as a useful diagnostic and research tool in medicine.     

A dermatoglyphic study of a group of Sicilian children with fragile-X syndrome

In a dermatoglyphic study of 14 fra(X) boys (compared with a control group of 191 normal schoolboys), we observed the following statistically significant (p less than 0.01) differences: 1) lower frequency of ulnar loops on the fingertips, particularly on the 2nd and 3rd fingers, with a corresponding increase of whorls; 2) transverse course of main line A; 3) increased frequency of abnormal palmar creases. The log score index of Simpson et al [1984] identified 71.4% of our patients and that of Rodewald et al [1986] 64.2%. The different values of these indexes can probably be attributed to ethnic differences. We think that by combining the results of dermatoglyphic analysis from several centers a more discriminatory log score index can be obtained.     

Dermatoglyphics in parents of children with trisomy 21

Dermal patterns in a group of Down's syndrome patients, a normal control population and a group of parents of Down's syndrome patients were studied in an attempt to identify an Index Score to be used in differentiating controls from parents of Down's syndrome children. Using only three patterns (simian crease, palmar hypothenar pattern and Cummins' Index), a parents' Index Score was established which correctly diagnosed 80.83% of controls and 79.17% of parents. The predictive value of this index and its interest in genetic counselling are discussed.     

The dermatoglyphic pattern of the trisomy 9p syndrome

This paper shows that the study of dermatoglyphics is an objective aid in the clinical diagnosis of chromosomal dysmorphic syndromes. The dermatologlyphic patterns of four patients with trisomy 9p were analyzed and compared with dermatoglyphic data from 63 published case reports on the condition. We consider that the following traits constitute the combination of dermatoglyphic patterns that is specific to trisomy 9p: an excess of arches on the fingertips and toes, a low total finger ridge count, the absence of digital triradii b and c, and the presence of zygodactylous triradii z, z' and z', a simian crease, a single crease on the 5th finger, a hypothenar crease, a distally placed axial triradius t', a proximal or tibial arch or both on the hallux, and increased intensity of the plantar patterns. A "phantom picture" is constructed, which can be used for dermatoglyphic diagnosis of the trisomy 9p syndrome.     

Arachnodactyly and unusual dermatoglyphics: study of a case

Clinical and dermatoglyphic findings are reported on a 3-yr old girl with multiple congenital anomalies and unusual dermatoglyphics. The anomalies, including contractural arachnodactyly, rhizomelia (a relative shortening of the proximal segment of the limbs), skin dimples, clinodactyly, disharmonic hand bone maturation, absent, hypoplastic and unusually positioned digital and metacarpophalangeal flexion creases, are not indicative of Marfan syndrome, but it is unclear what this syndrome constitutes. Among the child's most striking dermatoglyphic features, the fingertip patterns (mostly large whorls with extralimital triradii) extend proximally to the middle phalanx and are associated with unusually placed triradii. The furrows between the epidermal ridges are narrower on the volar aspects of the middle and distal phalanges than on the proximal phalanges and palms, resulting in a higher ridge density in the former areas. Dermatoglyphic comparisons between the proposita and her parents are provided. These dermatoglyphic aberrations may indicate the presence of a deleterious agent active during the period of the development of the ridge configurations and of the digital flexion creases.     

Dermatoglyphic patterns in trisomy 8 syndrome*

Up to the present, 38 cases of trisomy 8 have been found. As most of the patients showed mosaicism, the clinical picture is variable and it seems possible that some mosaics will not be detected by the usual cytogenetic examination of blood cultures. We therefore examined the dermatoglyphics of our own case and compared the results with the findings in the other cases reported in the literature, in order to establish a typical dermatoglyphic pattern in trisomy 8 which might be useful in diagnosis. All patients exhibited several unusual dermatoglyphics, including: a low TFRC (x?= 96.06), high palmar (92.9%) and plantar (100%) pattern intensity, a distally placed axial triradius (62.5%), loop with accessory triradius in an interdigital area (91.7%), thenar (68.2%) and hypothenar (50.0%) patterns, simian crease (47.1%), bilateral arches on the great toes (88.9%) and hallucal-whorl (72.2%). A distinctive feature was the presence of zygodactylous triradii z, z and z (100%) on the soles of the feet, and deep skin furrows on the palms and soles (68.2%). This combination of dermatoglyphic features appears to be characteristic for the trisomy 8 syndrome.     

An infant with ring 17 chromosome and unusual dermatoglyphs: a new syndrome?

A case of ring 17 chromosome in a 5-month-old male infant is investigated and compared with five previously reported cases. The findings commonly observed in these patients include mental and motor retardation, seizures, short stature, muscular hypotonia, and microcephaly among others. Dermatoglyphic studies showed an increased number of ulnar loops. More interestingly, bilateral transverse hypothenar creases were noted. Two of the reported cases also had unspecified genital abnormalities. The variation in clinical findings among these patients may be explained by a difference in the breakpoints on chromosome 17.     

Characteristics of body constitution and their relations to success in learning

Somatotype, finger dermatoglyphic pattern type, emotional stability level and foreign languages learning successfulness have been analyzed in 297 male cadets (aged 17-20 years) of the Military Institute of Physical Training. The cadets studied most frequently belonged to macrosomal and mesosomal somatotypes. In the study of finger patterns, loops were found to be most common (61.5% of all the patterns), while ringlets (33.4%) and arc patterns (5.1%) were less frequent. The amount of ulnar loops increased, while that of ringlets became less in the direction from micro- to macrosomal type. Almost half (46.9%) of the cadets appeared to be ambiverts, 30.8% were intraverts and the rest were extraverts. Loop patterns on all the fingers to a greater extent were found in cadets with high level of neuroticism; the cadets having lower neuroticism level were characterized by a combinations of loops with arcs on the left hand and arcs with ringlets on the right one. The cadets differing in foreign language learning successfulness level were different in their dermatoglyphic patterns and, especially in the prevalence of pattern combinations. So, among the excellent pupils the loop-arc combinations were 2.7 times more common and combinations of all three types of patterns (arcs, loops, ringlets) were 1.4 times more common.     

Intimal hyperplasia in the distal ulnar artery; Influence of gender and implications for the hypothenar hammer syndrome.

INTRODUCTION: The distal ulnar artery in the hand is subjected to trauma when the hypothenar eminence is used as a hammer. The clinical presentation of arterial obstruction or aneurysm formation at this site with a history of trauma to the hypothenar eminence is termed the hypothenar hammer syndrome (HHS) and is most commonly observed in the right hands of men. Since the trauma-inducing activities associated with the HHS are common, the histopathology of this arterial segment in our autopsy population was evaluated. METHODS: The distal ulnar artery in the hand was examined in 21 randomly selected autopsies. Formalin-fixed paraffin-embedded cross sections of artery were assessed using hematoxylin and eosin (H&E), trichrome and elastic stains as well as immunohistochemistry for CD34 and alpha-smooth muscle actin. RESULTS: Intimal hyperplasia is common at this site in the vasculature. The degree of intimal hyperplasia, as assessed by the intima/media ratio, is significantly greater in the right hands of men than in either their corresponding left hands or in women. None of the arterial segments examined contained foam cells or extracellular lipid deposits indicative of atherosclerosis. CONCLUSIONS: In the injury-prone segment of the distal ulnar artery, intimal hyperplasia is common but is particularly severe in the right hands of men, correlating with the demographics of the HHS. Although, this arterial segment frequently develops intimal hyperplasia, it is resistant to the development of atherosclerosis.     

BACE2 expression increases in human neurodegenerative disease

β-Secretase, the rate-limiting enzymatic activity in the production of the amyloid-β (Aβ) peptide, is a major target of Alzheimer's disease (AD) therapeutics. There are two forms of the enzyme: β-site Aβ precursor protein cleaving enzyme (BACE) 1 and BACE2. Although BACE1 increases in late-stage AD, little is known about BACE2. We conducted a detailed examination of BACE2 in patients with preclinical to late-stage AD, including amnestic mild cognitive impairment, and age-matched controls, cases of frontotemporal dementia, and Down's syndrome. BACE2 protein and enzymatic activity increased as early as preclinical AD and were found in neurons and astrocytes. Although the levels of total BACE2 mRNA were unchanged, the mRNA for BACE2 splice form C (missing exon 7) increased in parallel with BACE2 protein and activity. BACE1 and BACE2 were strongly correlated with each other at all levels, suggesting that their regulatory mechanisms may be largely shared. BACE2 was also elevated in frontotemporal dementia but not in Down's syndrome, even in patients with substantial Aβ deposition. Thus, expression of both forms of β-secretase are linked and may play a combined role in human neurologic disease. A better understanding of the normal functions of BACE1 and BACE2, and how these change in different disease states, is essential for the future development of AD therapeutics.     

Down's syndrome and leukemia: epidemiology, genetics, cytogenetics and mechanisms of leukemogenesis

The association of Down's syndrome and leukemia has been documented for over 50 years. Multiple studies have established the incidence of leukemia in Down's syndrome patients to be 10- to 20-fold higher than that in the general population. The age of onset for leukemia in these children is bimodal, peaking first in the newborn period and again at 3-6 years. This increased risk extends into adulthood. All cytogenetic types of Down's syndrome apparently predispose to leukemia. The proportion of acute lymphoblastic leukemia and acute nonlymphoblastic leukemia in patients with Down's syndrome is similar to non-Down's syndrome leukemia patients matched for age. There are case reports in which leukemia, Down's syndrome, and other chromosomal aberrations cluster within a family. In these kindreds, there may be a familial tendency toward nondisjunction. Congenital leukemia also occurs with increased frequency in Down's syndrome patients, and is characterized by a preponderance of acute nonlymphoblastic leukemia (similar to non-Down's syndrome patients). Transient leukemoid reactions have been observed in Down's syndrome patients, as well as in phenotypically normal children with constitutional trisomy 21 mosaicism. The transient leukemoid reactions are characterized by a high spontaneous remission rate. However, in some Downs syndrome patients with apparent transient leukemoid reaction, leukemia relapse following periods of spontaneous remission have been reported. Cytogenetic studies of leukemic cells in Down's syndrome patients show a tendency toward hyperdiploidy. Besides trisomy 21, there is no other specific cytogenetic abnormality that is characteristic of the leukemia cells in Down's syndrome patients. The possible mechanisms for leukemogenesis in Down's syndrome patients may involve factors at the levels of the organism, the organ/system, the cell, the chromosomes or the DNA.     

Dermatoglyphic findings in 54 triple-X females and a review of some general principles applying to the soles in sex chromosome aneuploidy.

The dermatoglyphic findings from 54 females with XXX sex chromosomes are reported. Sole prints were available for study in 33 cases. Compared with female controls, an excess of radial loops and arches and a reduced mean for total finger ridge-count were the main peculiarities on the fingers. On the palms, the absence of pattern in areas I and II, and wider ridges in the a-b interval were characteristics observed. Prevous findings by other authors with respect to: (1) zygodactylous tendency in the palms, (2) tendency for the ridge width to increase with the number of sex chromosomes, and (3) greater effect of an extra X chromosome in pattern size reduction but lesser influence on ridge width than an additional Y chromosome, were confirmed. On the soles, pattern intensity was above the control average. There was a significant deficit of proximal loops in area III but excess of proximal V together with triradius H. Triradius p" and zygodactylous z' were also significantly reduced in frequency. General findings with respect to the soles of patients with X,XXX,XXY, and XYY sex chromosomal abnormalities are also reviewed. Discrepancies are apparent and further studies are needed. Finally, a dictionary (Appendices 1 and 2) is provided which gives the frequencies of the complete pattern configurations on the palms and soles of XXX females.     

Sex differences and bilateral asymmetry in dermatoglyphic pattern elements on the fingertips

In the present paper, 539 Polish families and 999 individuals (515 males and 484 females) were analysed to determine whether asymmetry of dermatoglyphic patter elements on the fingertips of ulnar and radial loops in genetically controlled. And we enquire whether the body is bilaterally asymmetrical. We have found the asymmetry between right and left hand fingertips for ulnar and radial loops, for each digit and between the two sexes. The differences between the sexes is small. The bimanual difference in dermatoglyphic pattern elements between hands, right minus left, has been used as a measure of asymmetry. The mean and variance difference for males is not significantly different from the mean and variance for females. An investigation was also made of correlations between relatives for bimanual differences, right minus left. We may conclude from these results that the asymmetry of dermatoglphic pattern elements on fingertips of ulnar and radial loops has little hereditary component. Finally, the results of this work show that the dermatoglyphic pattern elements on fingertips of ulnar and radial loops on each side of the body are inherited.