American Journal of Medical Genetics (Am J Med Genet)
The American Journal of Medical Genetics publishes 40 issues a year on all biological and medical aspects of genetic disorders and birth defects for physicians medical geneticists and associated professionals. The Journal's primary purpose is to report original research in the following areas: Biochemical Genetics including newborn screening carrier detection and the metabolic dysplasia and malformation syndromes; Cancer Genetics and Cancer Cytogenetics including experimental and molecular approaches; Clinical Genetics including descriptions of new syndromes new causal and pathogenetic insights into known syndromes advances in genetic counseling nosology anthropometry and anthropology including dermatoglyphics; Clinical Molecular Genetics including linkage mapping and gene sequencing; Formal Genetics including quantitative population and epidemiological genetics; Molecular Cytogenetics including delineation of syndromes due to chromosomal aberration; Neuropsychiatric Genetics including reports on novel research on the genetic mechanisms underlying psychiatric and neurological disorders; Reproductive Genetics including prenatal diagnosis and the genetics of prenatal and perinatal death in humans. Reports on animal models of human genetic disorders ethical legal and social issues fetal genetic pathology and teratology Genetic Drift historical aspects of medical genetics and studies of twins and twinning are appropriate for the Special Features section of the Journal. Discontinued now American Journal of Medical Genetics Part A, B and C.
Current impact factor: 3.23
Impact Factor Rankings
|Website||American Journal of Medical Genetics website|
|Other titles||American journal of medical genetics., American journal of medical genetics. Part C, Seminars in medical genetics, Seminars in medical genetics, American journal of medical genetics|
|Material type||Document, Periodical, Internet resource|
|Document type||Internet Resource, Computer File, Journal / Magazine / Newspaper|
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Publications in this journal
- [Show abstract] [Hide abstract] ABSTRACT: Canine ceroid-lipofuscinosis (CCL) is a model of the juvenile type of Batten disease in human patients. Abnormalities have been reported previously in 4-hydroxynonenal (HNE) levels in English setters with CCL. The purpose of this study was to examine the sources of HNE in neutrophil membranes and plasma of CCL dogs. The fatty acid composition of neutrophil phospholipids, i.e., phosphatidyl ethanolamine and phosphatidyl serine, was determined by gasliquid-chromatography (GLC) since some polyunsaturated fatty acids (PUFA) are precursors of HNE. The copper catalyzed peroxidation of low density lipoprotein (LDL) was examined to determine the susceptibility of LDL from CCL dogs to peroxidation. The results indicated that a number of PUFA precursors of HNE decreased in affected and carrier neutrophil phospholipids, indicating that this source of HNE may be disease specific. The Cu++ catalyzed formation of HNE from LDL demonstrated that carrier and normal LDL produced large amounts of HNE, while LDL from affected dogs required much higher concentrations of Cu++ for maximal HNE production. These results provide additional support for the role of HNE in the pathogenetic events in NCL and support the view that lipid peroxidation may be an important contributor to the complex pathogenesis of the NCL. © 1995 Wiley-Liss, Inc.
- [Show abstract] [Hide abstract] ABSTRACT: We report on a father and son with mild Brachmann-de Lange syndrome. Previous reports have documented apparent autosomal dominant transmission; however, only one example of male-to-male transmission of possible Brachmann-de Lange syndrome has been reported. This case provides further evidence of the existence of an autosomal dominant form of Brachmann-de Lange syndrome. © 1994 Wiley-Liss, Inc.
- [Show abstract] [Hide abstract] ABSTRACT: All Down syndrome (DS) children have different degrees of developmental disabilities, developmental delay, and developmental brain abnormalities associated with CNS maturation delay and cortical dysgenesis. We have examined 780 occipitofrontal circumferences (OFC), mean and ± SD, of DS children from birth to age 5 years. Also, gross and microscopic neuropathological studies in the same age group were performed, with special attention to brain weight (BW), shape, myelin formation, cortical organization of 101 DS and 80 non-DS individuals; ultrastructural studies were also performed on selective cases (five DS and five non-DS). The OFC was plotted on Nellhause curves and showed microcranium after mid-infancy in most cases. Twenty percent of DS children had an OFC in the lower normal range. The brain shape in DS newborn infants was the same as in non-DS infants, but after 3–5 months of age in DS infants the antero-posterior diameter was found to be shorter than in non-DS infants. Narrowness of the superior temporal gyrus was noted in 34 of 101 (33%) of DS brains, Microscopic examination showed myelination delay in 22.5% DS and only in 6.8% non-DS children. Morphometric studies in DS cases from birth showed fewer neurons (20–50% less), lower neuronal densities, and neuronal distribution, especially of cortical layers II and IV. Ultrastructurally in DS, the synaptic density, synaptic length, and contact zones were found to be abnormal. The retardation of brain growth, maturation delay, and cortical dysgenesis present in DS children most likely are regulated by the extra chromosome 21, but the gene responsible for the abnormalities remains to be determined.
- [Show abstract] [Hide abstract] ABSTRACT: Individuals with Down syndrome (DS) have an enhanced susceptibility to viral and bacterial infections. Previous studies by our laboratory demonstrated alterations in the proportions of peripheral T cell subpopulations and decreased proliferative, interleukin-2, and antibody responses to viral and bacterial antigens in DS. These data suggested that DS lymphocytes have a diminished ability to recognize and respond to specific antigen. It has been proposed that the abnormalities in T cell function in DS may be a result of aberrant T cell maturation within the DS thymus. Therefore, we examined by immunofluorescence and flow cytometry the cell surface expression of the α,β chains of the T cell receptor (TCRα,β) and the associated CD3 molecule on thymocytes from 10 DS and 27 control children. A significantly smaller proportion of cells expressing high levels of TCR α,β was observed in DS thymuses compared to controls (17.0% vs. 34.3%, respectively; P<0.01). A similar observation was made for CD3, a molecule responsible for signal transduction through the TCR, where a lower proportion of cells expressing high levels of CD3 was found in DS compared to controls (18.4% vs. 43.3%, respectively; P < 0.001). These data are evidence for aberrant T cell maturation in DS. In addition, our findings of decreased acquisition of high levels of the molecules which are critical for antigen-specific recognition by T cells suggest a possible mechanism for the decreased T cell function found in individuals with DS.
- [Show abstract] [Hide abstract] ABSTRACT: Twenty-eight children with Down syndrome (DS) and acute lymphocytic leukemia (ALL) were compared to non-DS control leukemics matched by age, white blood cell (WBC) count, and treatment protocol to evaluate presenting manifestations, toxicity, and outcome. The DS children with ALL did not have unique clinical or biologic characteristics to distinguish their disease from that of non-DS patients. Eleven of the DS patients had successfully banded cytogenetic studies of their leukemic cells with the distribution of model chromosome number of 46 (n = 1), 47 (2), 48 (5), and >50 (3). The abnormal leukemic line involved an isochromosome 9[i(9q)] in 3 cases. Multiagent chemotherapies induced complete remissions in 25 patients (85%), yet overall 5 year eventfree survival was only 23 ± 8% when compared to 64 ± 9% for control children receiving similar therapies (P < 0.01). A significant cause of treatment failure was late marrow recurrence in the DS children. Host toxicity was striking in these children. Severe congenital heart disease present in one-third contributed to 2 deaths during antileukemia therapy. Hyperglycemia secondary to diabetogenic agents and repeated bronchitis were common toxicities. Intolerance to the antifolate methotrexate with severe gastrointestinal and skin toxicities was universal. We conclude that the poor prognosis for the child with DS and ALL stems in part from their increased risk of complications and toxicity from intensive modern leukemia therapies, specifically antifolates.
- [Show abstract] [Hide abstract] ABSTRACT: In this research,we consider some psychological, social, and clinical implications of premature aging in persons with Down syndrome (DS). Perceptual and adaptive tests contribute to a better knowledge of the characteristics of mental decline and self-government in DS adults. Visual-perceptual abilities (as measured by the Frosting Development Test of Visual Perception) and behavioral and social adaptation (measured by the Brown Adaptive Behavioral Inventory) were examined in 44 DS subjects aged 14 to 43 years. The results indicated a general decline in performance in the older groups (over 25 years), except in the visual-motor subtest, where a decline is less evident, as this ability continues to be exercised in craft work. Statistical analysis indicates a significant correlation between perceptual abilities, adaptive scales, and mental age. From the data collected, we draw some general conclusions about the trend of perceptual abilities and self-government in relation to aging in DS persons.
- [Show abstract] [Hide abstract] ABSTRACT: In trisomy 21, pathogenesis of mental retardation is still poorly understood although the knowledge of the genic content of chromosome 21 is steadily increasing. Short of discovering how to silence selectively one of the 3 chromosomes 21, no rational medication can be envisaged before pathogenesis has been unraveled, at least partially. A biochemical scheme of impairment of mental efficiency is presented. Secondarily, the possible deleterious effects of a given gene overdose are discussed. Cu/Zn SOD, cystathionine beta synthase, S 100β protein, phosphofructokinase, purine synthesis and adenosine pharmacology, thyroid disturbance, and elevated TSH with low rT3 as well as biopterine metabolism interferences are reviewed. It is observed that the metabolic paths controlled by these genes, although unrelated at first glance, are in fact tightly related by their effects, just as if synteny was in some way related to biochemical cooperation or mutually controlled regulation. Experiments in vitro have demonstrated a peculiar sensitivity of trisomic 21 lymphocytes to methotrexate. From this starting point, systematic research of special sensitivities has begun. Clinical observations and relevant statistical methods allow study of the speed of mental development under various medications. The interest of regulating thyroid metabolism, when needed, is exemplified. Reequilibration of monocarbon metabolism is discussed and the seemingly favourable effect of folinic acid medication in pseudo-Alzheimer complication is presented.
- [Show abstract] [Hide abstract] ABSTRACT: Neuropathological lesions characteristic of Alzheimers' disease (AD) are found in all the brains of patients with trisomy 21 who die after age 40 years. However, clinical signs of AD are much less frequent in these patients. Previous studies indicate prevalence figures ranging from 15% to 51% of adult patients. We report here on the prevalence rate of dementia in a population of adult patients with trisomy 21 with mild retardation living at home. For all these patients accurate and reliable anamnestic data could be obtained from parents and caregivers. All underwent neurological examination, cognitive testing, and, if necessary, further bioimaging and neurophysiological studies. Dementia was diagnosed according to clinical NINCDS/ADRDA criteria slightly modified. Dementia was found in 9 of 50 (18%) patients age 20–52 years, but its prevalence increased from O in the age group 20–29, to 33% in the age group 30–33, and to 55% in the age group 40–52. All the demented patients had signs of brain atrophy on CT scans and slow EEGs. Dementia is an important problem for patients with trisomy 21 older than age 30 years.
- [Show abstract] [Hide abstract] ABSTRACT: The extent to which autoimmunity contributes to thyroid dysfunction in Down Syndrome (DS) individuals has not been clarified. We studied 61 persons (34 males and 27 females) with DS (age 5 months to 48 years) for the presence of thyroid autoantibodies (thyroid microsomal antibodies and thyroglobulin antibodies), pancreatic islet cell autoantibodies, gastric parietal cell autoantibodies, and adrenocortical autoantibodies. Thyroid function was determined by measurement of TSH. HLA-A, B and -DR typing was performed on 52 subjects. Forty of 61 subjects (66%) had thyroid dysfunction: elevated TSH values (greater than 5 mcIU/ml) were found in 35 of 61 individuals; 3 subjects had previously documented Hashimoto thyroiditis and were on therapy for hyperthyroidism; and 2 persons had Graves disease. No age or sex variation was detected. Seventeen (28%) subjects had thyroid autoantibodies. Fifteen of the 17 had thyroid dysfunction. Twelve of 25 subjects (48%) over 10 years with thyroid dysfunction had thyroid autoantibodies compared to only 3 of 15 (20%) under the age of 10 years. However, children less than of 10 years tended to have higher TSH values. Only 1 individual who had thyroid antibodies had gastric parietal cell autoantibodies present. Islet cell and adrenocortical autoantibodies were not found in any individuals. Neither thyroid dysfunction nor thyroid autoantibodies correlated with any HLA allele. These findings suggest that thyroid dysfunction in individuals with DS of all ages is a common heterogeneous disorder which cannot be solely explained on the basis of autoimmunity. We recommend that thyroid function be followed closely whether or not thyroid autoantibodies are present.
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