SEARCH · Search PubMed
Search indexed PubMed citations on genomics, clinical trials, systematic reviews and public health. Explore titles, authors and supplied subject terms, then open the PubMed record.
Quote a phrase for an exact phrase match. Source license links do not imply unrestricted reuse.
Amelogenesis imperfecta (AI) is a heterogeneous genetic disorder which affects the dental enamel. It can have an autosomal dominant, autosomal recessive or X-linked pattern. The authors describe a case of a family with hypomaturation X-linked AI and discuss the clinical and histopathological aspects of this disorder.
We report two sisters affected with a unique disorder characterized by recurrent space-occupying brain lesions and retinal vasculopathy since their early twenties. Affection status was associated with abnormalities characteristic of Fanconi's anemia, i.e. aplastic anemia, microcephaly, short stature, an unusual face and pigmentation abnormalities of skin. In cytogenetic analyses performed in childhood signs of chromosome fragility or any chromosomal aberration were lacking. Histopathological examination of brain biopsy samples in both cases demonstrated identical histomorphological features of an unusual occlusive vasculopathy with multilayered basement membranes and coagulation necroses which were confined to the white matter. A veno-occlusive retinopathy with neovascularization attributed to progressive visual loss. One of the sisters died at an age of just 24 years, the other is now 27 years old. Unlike any other published cases of hereditary cerebroretinal vasculopathy, the sisters' complex early-onset vaso-occlusive CNS-/eye-disease seems to be genetically associated with their Fanconi's anemia-like phenotypes and is suggested to constitute an autosomal-recessive variant. Patchy white matter calcifications, an incidental finding in either of the affected sisters, may represent preclinical manifestation of disease onset in childhood.
Explore the source record for details and available documents.
A breeding colony of Macaca fascicularis was established at the New England Regional Primate Center in 1977 and continued through 1984. Characterization of the offspring of this colony at 18 and 30 months of age suggested that higher blood pressure levels are hereditary in M. fascicularis, but evidence to date cannot determine if this condition is harmful to the animals.
We present 10 patients with autosomal dominant transmission of a pigmentary pattern characterized by facial, lip, extremity, buttock, and palmoplantar small, discrete hyperpigmented macules. None of the patients had lesions of the oral mucosa or internal organ system abnormalities. These patients' pigmentary pattern can resemble the ones seen in other lentiginosis syndromes. Those most closely mimicked--the Peutz-Jeghers syndrome, the centrofacial lentiginosis syndrome, and Carney's syndrome--all have associated internal abnormalities. We believe the pattern of pigmentation in these 10 black patients is distinct.
The fluorescence anisotropy of 1,6-diphenyl-1,3,5-hexatriene in labeled platelet membranes, an index of membrane fluidity, is a stable, familial trait that is associated with a clinically distinct subtype of Alzheimer disease. Complex segregation analysis of this continuous variable was performed on 95 members of 14 pedigrees identified through probands who had autopsy-confirmed or clinically diagnosed Alzheimer disease. The results suggest that platelet membrane fluidity is controlled by a single genetic locus, PMF, with two alleles that have additive effects. The PMF locus appears to explain approximately 80% of the total variation in platelet membrane fluidity within the families of patients with Alzheimer disease.
Explore the source record for details and available documents.
Explore the source record for details and available documents.
Explore the source record for details and available documents.
Explore the source record for details and available documents.
Measurements of coagulation factor XII levels in F1 progeny of a cat having factor XII deficiency revealed an autosomal recessive pattern similar to that reported in humans (Hageman trait). A study of the pedigree of the colony revealed that F1 kittens had approximately 50% factor XII activity while kittens produced by backcrossing with an F1 progeny possessed an average of 50% and a less than 2% factor XII activity in an approximate 1:1 ratio. Kittens having an average of 50% factor XII activity were postulated heterozygous for the trait while progeny with less than 2% activity were considered genetically homozygous.
BACKGROUND: A variety of inheritance patterns for familial ovarian cancer have been proposed including an autosomal dominant inheritance, a breast-ovary cancer syndrome and Lynch Cancer Family Syndrome (involving breast, bowel, ovary, and endometrial cancers). METHODS: Women participating in an ovarian cancer screening study completed a questionnaire concerning their family history of ovarian and other malignancies (in particular breast, bowel, and endometrial cancer). Confirmation of the diagnosis was sought when there was uncertainty. RESULTS: Two hundred forty women with a first-degree relative with ovarian cancer participated in the study. Nine percent of these women (representing 13 families) gave a definite history of two or more affected first-degree relatives. Two families had a pedigree consistent with an autosomal dominant inheritance. A breast-ovary cancer family and a Lynch cancer family syndrome were suspected in one family each, although 34% of all women gave a history of at least one other first-degree relative with either breast, bowel, or endometrial cancer. CONCLUSIONS: Only a small number of women with a family history of ovarian cancer fit into the recognized hereditary patterns. Difficulty in recognizing the inheritance patterns and the lack of definitive genetic markers poses problems in providing adequate counseling regarding screening and prophylactic oophorectomy.
CGD is a rare phagocytic disorder manifesting as recurrent, severe bacterial and fungal infections. We describe an Iranian family with eight children, of whom six, five males and one female were diagnosed with CGD resulting in diffuse pulmonary sterile granulomatous lesions. Three died despite multiple courses of antibiotic and antituberculosis medications while three are alive, to date they are asymptomatic but with imaging and pathologic findings of pulmonary granulomatosis, treated with steroids. The parents are healthy. Our report describes the clinical manifestations and outcome in this family. The inheritance pattern suggests an autosomal recessive pattern with high penetrance.
An understanding of the basic principles of human inheritance patterns is necessary to appreciate the variety and complexity of genetic influences in the epilepsies. The various modes of human inheritance include single gene (mendelian), chromosomal, mitochondrial, and multifactorial/polygenic. Recent insights regarding imprinting, anticipation, and uniparental disomy have been made and have an impact on our understanding of human genetics. All of these phenomena are likely to be of importance in the epilepsies and form the basis for a more detailed analysis of the relevant molecular biology.
The genetic defect in the p67phox-deficient form of chronic granulomatous disease (CGD) follows an autosomal recessive pattern of inheritance. When genomic DNA from normal individuals is digested with HindIII and probed with p67phox cDNA an allelic restriction fragment length polymorphism (RFLP) of 4.0 kb or 2.3 kb is detected. We cloned and characterized the p67phox gene using the cDNA and sequenced the exon/intron boundaries, mapping 16 exons on the 40-kb gene. The polymorphic region was then sequenced to identify the inheritance pattern of amniocentesis-derived fetal cells by genomic amplification. The proband, a 9-year-old female patient with p67phox-deficient CGD, and her phenotypically normal mother are homozygous for the RFLP marker, whereas the father and two brothers are heterozygous. The fetus was shown to be heterozygous as well, showing it had inherited at least one normal p67phox gene from the father and that it was predicted to have a normal phenotype. Cord blood samples at birth showed normal oxidative function. Amplification allows rapid detection of the inheritance pattern for fetal diagnosis in informative families. We report the genomic structure of p67phox and an amplification-based method for detection of the marker on chromosome 1q25, used here for prenatal diagnosis of CGD.
We present a case of familial prune belly syndrome and review potential modes of inheritance for the syndrome. A total of 11 cases of familial prune belly syndrome have been reported. These cases were reviewed and possible modes of inheritance were determined for each case. Our review strongly suggests a sex-influenced autosomal recessive mode of inheritance.
UNLABELLED: Our modern concepts of genetic inheritance originated nearly a century ago. Early concepts of dominant and recessive inheritance were developed in insects and were subsequently applied to sex-linked inheritance in mammals. Years of clinical experience, however, suggest that the modern-day rules for X-linked dominant and recessive diseases do not explain why so many female carriers of X-linked 'recessive' disorders have an abnormal phenotype. In a review of 32 X-linked diseases we revealed an unexpectedly high degree of intermediate disease penetrance in females that cannot be explained by existing concepts. We recommend that the terms 'dominant' and recessive' be abandoned and that these disorders be referred to as X-linked. In this review we will present modified rules for X-linked inheritance and propose hypotheses related to the potential mechanisms that may explain differences in disease expression in females. CONCLUSION: Past assumptions regarding factors that may affect phenotype in heterozygous females do not capture the extraordinarily variable expressivity of X-linked disorders in females and need to be revisited.
We investigated 185 families with ALS for evidence of anticipation and mitochondrial inheritance. Although initial analysis demonstrated significant anticipation of age at death between generations in patients with familial ALS, further analysis demonstrated features of regression to the mean, suggesting that the perceived differences are the result of bias. In addition, there was no evidence of an effect of preferential maternal inheritance, which would have supported transmission of mitochondrial DNA mutations.