Abnormal Dermatoglyphic Patterns Research Articles

A Comparative Study of Dermatoglyphic Patterns of Fingers in Normal Children and In Children with Congenital Heart Diseases

Introduction: Dermatoglyphics is the study of epidermal ridges and their configurations on the palmar and the plantar regions. Currently dermatoglyphics is being used as a tool in the field of biology, anthropology, genetics and medicine to explain, compare and to predict the occurrence of bio medical events. Finger prints are usually categorized into three basic groups namely arches (60-65%), loops (30-35%) and whorls (5%). Any prenatal insult during this critical period of embryogenesis/organ system development should have an influence on the dermatoglyphic patterns.4Congenital heart defects are a heterogeneous group of diseases in which etiology, importance of genetic as well as environmental factors have been recognized. These defects show a familial tendency but no Mendelian pattern of inheritance has been described. In the present study, finger dermatoglyphic patterns in congenital heart diseases are studied and compared with controls. Subjects and methods: Dermatoglyphics are studied in 100 children with congenital heart diseases, both males and females. The dermatoglyphic patterns of palms and fingers were studied and the information was recorded systematically and statistically analyzed. Results: Ventricular septal defects (VSD) form the majority in the both the males (50%) and females (34.8%) in the congenital heart diseases group, followed by Atrial septal defects (ASD) in both males (20.4%) and females (39.1%). In both, the cases and controls group, it is found that the majority are loops followed by whorls and then the arches. The increase in whorls in congenital heart diseases is statistically significant with p value < 0.001. Comparing the cases with controls it is found that the Whorls (p < 0.001) and the loops (p <0.001) were statistically significant, it means that the Whorls are more frequently found in congenital heart diseases than the controls. Conclusion: Congenital heart diseases are associated with abnormal dermatoglyphic patterns. Increased number of Whorls and decreased number of Arches are seen in the congenital heart disease children. The above fingerprint pattren may help as a diagnostic aid in diagnosis of congenital heart diseases in children. They may also help in distinguishing congenital heart diseases from the functional and acquired heart diseases. A larger sample study is required to ascertain the value of this dermatoglyphic parameter as a diagnostic tool in congenital heart diseases in children.

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BACKGROUND: To study the age, birth order, consanguinity marriage, reproductive history, demographic pattern of parents and chromosomal pattern of the Down's syndrome (DS) patients of Odisha population coming to the different medical colleges of Odisha. METHODOLOGY: Detailed history of the parents was taken by questioners and the DS patients were examined by ink- pad technique and chromosomal analysis methods. RESULT: DS more often affects the first and second order births of parents each comprising of 38%. Consanguinity marriage results 46% of DS cases. Ninety percent of DS children were born to mothers of age less than 30 years and 52% of DS were born to father less 30 years of age. There is a high frequency of spontaneous abortion (22%) and still birth (6%) in mothers of DS. Highest incidence (94%) of DS was seen in urban area with working in industry as the occupation of the parents (42%). In karyotypic analysis of DS patients primary trisomy, Mosaic Trisomy, Primary amenorrhea and translocation were 78%, 12%, 6% and 4% respectively. CONCLUSION: There is an increase incidence of DS at lower age group of parents. It is tempting to speculate that, the difference in clinical features, abnormal dermatoglyphic patterns etc, are related to the genetic constitution of the Down's syndrome individuals.

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BACK GROUND: To study the chromosomal pattern of the Down's syndrome patients of the eastern Indian population coming to the MKCG Medical College, Berhampur, Odisha, India. Methodology: 0.8ml of peripheral blood was collected from all the patients and cultured in RPMI 1640 medium for 72h in CO2 incubator. Then cells were harvested with colchicines and after the hypotonic treatment the slides were prepared and stained with giemsa. After that it was observed with high power microscope and reported. RESULT: From the 50 patients, 39 patients were Primary trisomy 21 (47, XX or XY+21), 6 was Mosaic Trisomy 21 (46/47, XX or XY+21), 3 was Down's syndrome Primary amenorrohoea (47, XX, +21) and there was 2 translocation 46, XY, t (14:21) 46, XY, t (21:21). The paternal age at 26-30 years were found more whereas the maternal age at 21-25 years was found more and males were more affected as compare to the females. CONCLUSION: It is tempting to speculate that, the difference in clinical features, growth retardation, abnormal dermatoglyphic patterns etc, are related to the genetic constitution of the Down's syndrome

An unusual presentation of Kabuki syndrome: Clinical overlap with CHARGE syndrome

Kabuki syndrome is a rare genetic disorder characterized by intellectual disability and multiple congenital anomalies, including short stature, peculiar facial appearance, skeletal anomalies, a variety of visceral malformations and abnormal dermatoglyphic patterns. We describe a case of Kabuki syndrome presenting with atypical features, consisting of bilateral microphthalmia, coloboma, anal atresia and panhypopituitarism, showing considerable phenotypic overlap with CHARGE syndrome. This report demonstrates that clinical follow-up and molecular genetic testing can be useful for establishing the correct diagnosis.

Does Exposure to Analgesics in Utero Cause Schizophrenia?

The cause of schizophrenia, a serious mental illness characterized by hallucinations, delusions and a marked deterioration in social functioning, is an enigma that continues to perplex the scientific community. While we know that approximately 80% of the risk of developing schizophrenia is conferred by genes (1), no research group has yet located a gene(s) contributing to the cause of schizophrenia. Moreover, while a significant environmental contribution is indicated by the fact that one‐half of monozygotic twins pairs are discordant for schizophrenia, the nature of this environmental contribution is still controversial. The past theory that an abnormal family upbringing was the causative environmental factor has not stood up to scientific scrutiny. In recent years, the search for causative environmental factors has focused on the possibility that some type of prenatal insult predisposes the fetus to develop schizophrenia in early adult life. The initial suspicion of an intrauterine insult was based on indirect evidence. First, dermatoglyphic patterns in patients with schizophrenia were noted to be abnormal. The dermal ridges are laid down between the third and fifth month of gestation, in effect leaving a fossilized record of neurodevelopmental perturbation. Second, minor physical anomalies, typically involving the mouth, ears and eyes, occur with increased frequency in schizophrenia. Much like dermatoglyphic abnormalities, minor physical anomalies represent a disruption of the final phase of the developmental shaping of the face, which takes place in the second trimester. Of course, both abnormal dermatoglyphic patterns and minor physical anomalies may reflect the effects of abnormal genetic regulation of development rather than an extrinsic insult.

Corneal choristoma associated with trisomy 8 mosaic syndrome: a clinicopathologic report

Trisomy 8 mosaicism is a rare chromosomal disorder with multisystemic abnormalities.1 Clinical features include characteristic facies; thick ears; abnormal dermatoglyphic patterns; mental retardation; and cardiovascular, genitourinary, and musculoskeletal malformations.2 The most commonly reported ocular manifestations are corneal abnormalities, cataract, iris heterochromia, and strabismus.3,4 We report a case of trisomy 8 mosaic syndrome with bilateral asymmetric corneal opacities. Histopathology of the corneal button obtained at the time of penetrating keratoplasty was consistent with a choristoma by inclusion of fibroblastic and glandular tissue. Surgical treatment permitted amblyopia therapy.

SCREENING FOR AUTOSOMAL ABERRATIONS

A method of screening for autosomal aberrations is important as an indication for chromosome analysis such as that used in sex-chromatin examination for sex chromosome aberrations. In our clinic, malformed patients with mental retardation and abnormal dermatoglyphic patterns are strong suspects for autosomal aberrations. Abnormal dermatoglyphic patterns are separated into two categories: (1) Absolutely abnormal--radial loop of 1st finger, radial loop of 4th finger, radial loop of 5th finger, arch over 6 fingers, arch tibial, loop tibial, and arch fibular; (2) Borderline abnormalities--high axial triradius (t' and t"), simian crease, interdigital loop, and single crease of 5th finger. Of 416 cases showing malformation, retardation, and abnormal dermatoglyphics, 308 had autosomal aberrations, while 108 had normal karyotypes. In the group with autosomal aberrations, 279 patients (90.6%) had absolutely abnormal dermatoglyphics. In the group with normal karyotypes only 8 patients (7.4%) had absolutely normal dermatoglyphics, while most had abnormal dermatoglyphics in the borderline category. These clinical manifestations: absolutely abnormal dermatoglyphics, mental retardation, and malformations are therefore very useful in screening for autosomal aberrations.

DERMATOGLYPHIC ANALYSIS OF CHILDREN WITH LEARNING PROBLEMS

Dermatoglyphic patterns can only be altered by environmental factors during the 1st and early 2nd trimesters. Since learning disabilities (L.D.) can have a prenatal etiology, it is likely that children with L.D. would have a greater frequency of abnormal dermatoglyphic patterns. In contrast to the children with prenatal factors, those with emotional or situational problems could be expected to have normal dermatoglyphics. Dermatoglyphic analyses were performed on 49 males and 27 females referred to our Evaluation Center for Learning Problems. Numerous dermatoglyphic parameters were studied, and, including the following, the frequency of specific patterns in children with learning problems was significantly greater than the frequency of these patterns in controls. Children with emotional or situational problems had normal dermatoglyphics. Dermatoglyphics may be useful in recognizing children whose L.D. has a prenatal etiology.

Y to X Translocation in a Woman With Reproductive Failure

A translocation of the Y to the X chromosome was found in a woman who had habitual abortion. Endocrinologic studies disclosed only an abnormal elevation of her prolactin and thyroid-stimulating hormone (TSH) levels. Phenotypically, she has a rare form of dwarfism and abnormal dermatoglyphic patterns. This new chromosomal rearrangement in the human has several implications.

Cornelia de lange syndrome. Report of a case.

A 13-month-old boy having typical features of Cornelia de Lange syndrome is described. Two additional features were capillary hemangiomata and abnormal dermatoglyphic patterns. He had repeated lower respiratory tract infections and succumbed at the age of 15 months to bronchopneumonia.

Hereditary brachydactyly and hip disease: Unusual radiological and dermatoglyphic findings in a kindred

Summary A kindred of brachydactyly is described in which there was disturbance of ossification of the middle phalanges of the hands and toes. There was also evidence of involvement of other epiphyseal centers including two cases of unilateral and one of bilateral hip disease resembling Perthes' disease. Degenerative arthritic changes do not appear to occur in this kindred. A high frequency of abnormal dermatoglyphic patterns occurred on the fingers and in the thenar/interdigital area of the palm and the hallucal area of the sole.

CEREBRAL GIGANTISM IN CHILDHOOD

Two cases of cerebral gigantism in childhood are reported, and 14 earlier cases are reviewed. The major manifestations of this non-progressive neurological disorder included gigantism, macrocrania, dolichocephaly, mental retardation, characteristic facies, high arched palate, and ataxia or clumsiness. Pneumoencephalography in 10 out of 11 cases revealed a dilated ventricular system. Normal fasting plasma growth hormone levels were found in our patients, but both showed evidence of impaired function of the hypothalamic-pituitary axis in that these levels failed to rise following marked hypoglycemia. Abnormal dermatoglyphic patterns are reported and their value as an aid to diagnosis is mooted. Both the cause and the nature of the neurological lesion remain obscure. The evidence favors a pathogenic mechanism operative in utero.