Search PubMed⌕ Search

SEARCH · Search PubMed

Results for “Inheritance Patterns”

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.

At least 847 records · Page 47Linked to original sources
PubMed1994

Ophthalmic features of minimal pigment oculocutaneous albinism.

PURPOSE: The purpose of this study is to describe the heterogeneous phenotype of individuals with an unusual type of albinism--minimal pigment oculocutaneous albinism. METHODS: Nine patients with minimal pigment oculocutaneous albinism were identified and followed for up to 11 years. The criteria were the presence of oculocutaneous albinism in association with low hairbulb tyrosinase activity in the patient and disparate activity in the parents with one parent having normal activity and the other having low tyrosinase activity. Changes in skin, hair, and ocular pigment were followed as the patients matured. As a measure of ocular pigment, iris transillumination and macular transparency were graded according to a previously published scheme. RESULTS: Patients were born with white scalp hair and skin, and nystagmus developed. Visual acuity was reduced to 20/50 to 20/200 for the group, but in one patient vision improved with maturity. Irides were blue. In seven patients, iris pigment developed, which was detected by transillumination with slit-lamp biomicroscopy, including the one patient with improved visual acuity. All patients had foveal hypoplasia, and melanin pigment in the fundi could not be detected by clinical examination. Visual acuity in the group did not correlate directly with the presence or development of iris transillumination or macular transparency. The pedigrees were consistent with an autosomal recessive inheritance pattern. CONCLUSION: This unique type of oculocutaneous albinism has heterogeneous clinical features. Minimal pigment oculocutaneous albinism appears to represent a new type of tyrosinase-related oculocutaneous albinism (OCA1MP).

Adolescent↗
PubMed1979

Inheritance of Fuchs' combined dystrophy.

The inheritance pattern of Fuchs' combined corneal dystrophy is not confirmed. Published pedigrees fail to demonstrate a 50% segregation and sex ratio. They include no more than two generations of affected individuals and indicate a strong, female predilection. The pedigree we will present shows 16 affected persons in four generations. The ratio of affected to unaffected and men to women is 1:1. Penetrance is apparently 100%. Nine of the affected are under 50 years of age; four are subteen age. Light and electron micrographs of corneal tissue from three patients in three different generations are consistent with the diagnosis of Fuchs' dystrophy. Fuchs' dystrophy can therefore be established as a classic autosomal dominant pattern.

Adolescent↗
PubMed1981

von Hippel-Lindau disease: angiomatosis of the retina and central nervous system.

von Hippel-Lindau disease is a phakomatosis that is characterized by multiple angiomatous hamartomas located in the retina, central nervous system (CNS),and visceral organs. Retinal angiomas causing blindness and CNS angiomas causing death are familiar consequences of this disease. In certain cases, early detection and treatment of these lesions may prevent their disastrous effects. Since this disease is considered to have an autosomal dominant inheritance pattern, the physician should initiate a systematic examination of all the patient's family members.

Adult↗
PubMed1991

Autosomal dominant crystalline dystrophy.

A black woman was identified with a tapetoretinal degeneration with sparkling intraretinal crystals, retinal pigment epithelial and choroidal atrophy, night blindness, color vision abnormalities, and paracentral scotomas. This constellation of findings is most consistent with the diagnosis of Bietti's crystalline dystrophy. Eight other family members were identified with intraretinal crystals similar to those seen in the proband but in varying degrees of progression. Transmission electron microscopy of circulating lymphocytes in several patients demonstrated crystals and granular osmophilic material of unknown composition contained within abnormal lysosomes. These crystals are similar in appearance and location to those seen in cholesterol ester storage disease. This family demonstrates an autosomal dominant inheritance pattern, as well as other differences from classic Bietti's crystalline dystrophy. The authors, therefore, suggest that this new entity be named autosomal dominant crystalline dystrophy.

Adult↗
PubMed1996

Autosomal-dominant inheritance of congenital superior oblique palsy.

PURPOSE: A pedigree comprised of five affected members is presented to demonstrate the genetic transmission of congenital superior oblique palsy. METHODS: A 2-year-old boy referred for strabismus was found to have bilateral congenital superior oblique palsy. The authors subsequently performed a complete ophthalmologic examination on all available family members to determine the inheritance pattern. The diagnosis of congenital superior oblique palsy was based on results of prism cover testing, ductions, and the Bielschowsky head tilt test, in addition to a history of early onset of symptoms and absence of preceding head trauma. RESULTS: The father, paternal grandfather, and a brother of the 2-year-old boy were found to have bilateral congenital superior oblique palsy. Evaluation of the paternal aunt showed right congenital superior oblique palsy. Bilateral absence of the superior oblique tendon was noted at the time of surgery in the 2-year-old boy. CONCLUSION: The occurrence of genetic transmission by an autosomal-dominant mode should be considered in patients with congenital superior oblique palsy.

Adult↗
PubMed1999

Pyramidal anterior polar cataracts.

OBJECTIVE: To document clinical features and subsequent management of pyramidal anterior polar cataracts in children. DESIGN: Retrospective, noncomparative case series and clinicopathologic correlation. PARTICIPANTS: Fifteen patients who presented to the pediatric ophthalmology clinic. INTERVENTION: All patients underwent measurement of visual acuity, assessment of ocular motility, examination of the anterior and posterior segments, and cycloplegic refraction. Amblyopia treatment was instituted when appropriate. When visual impairment occurred from cataract progression or amblyopia or both, cataract removal with or without lens implantation was performed. After surgery, correction of refractive error and treatment of amblyopia were instituted. Several pyramidal opacities were retrieved during cataract extraction and examined by light and electron microscopy. MAIN OUTCOME MEASURES: Visual acuity at initial presentation, size of lens opacity before surgery, amblyopia status, most recent visual acuity after cataract extraction, and histologic examination of lens opacity. RESULTS: Nine children had bilateral and six had unilateral pyramidal cataracts (24 eyes). There was no discernible inheritance pattern. Patients were followed for 27 months on average. Twenty of 24 eyes developed cortical opacification that extended significantly beyond the base of the pyramidal lesion. Nineteen eyes required cataract surgery: 10 eyes underwent lensectomy with anterior vitrectomy and 9 had extracapsular cataract extraction, 8 of which had insertion of a posterior chamber intraocular lens. Amblyopia was present or developed in all six patients with unilateral cataract and in eight of nine patients with bilateral cataract. Visual acuity in many eyes remained poor despite amblyopia therapy. The pyramidal opacities consisted of hyperplastic lens epithelium, which exhibited a loss of polarity and was surrounded by a collagenous matrix. CONCLUSIONS: Pyramidal anterior polar cataracts are present at birth and may represent a variant of anterior polar lens opacities. They may be unilateral or, if bilateral, they may be either symmetric or asymmetric. They consist of hyperplastic lens epithelium in a collagenous matrix. Patients with pyramidal cataracts are likely to develop amblyopia. This can result from either unilateral occurrence or asymmetry of bilateral opacities and is often worsened by surrounding cortical opacification. Many patients require cataract surgery. All infants and young children with anterior polar opacities showing this configuration should be followed for cataract progression and amblyopia.

Adolescent↗
PubMed2000

Critical overview of current approaches to genetic mechanisms in schizophrenia research.

A genetic etiology to schizophrenia was recognized a century ago by E. Kraepelin [Ein Lehrbuch fur studirende und aerzte, Vol II. Leipzig, Verlagvon, Barth (1899)], yet no clear inherited pattern or mechanism has been established. In the last decade, a new wave of molecular genetic studies of families with schizophrenia has yielded unconvincing evidence for the involvement of multiple putative loci. The task of the next century will be to use genomics to define the true nature of deviant brain growth and development throughout the lifetime of an individual that could result in the perceptual disturbances characterized as schizophrenia.

Humans↗
PubMed1997

Quantitative aspects of the relationship between the sickle-cell gene and malaria.

The relationship between resistance to Plasmodium falciparum infection and the frequency and distribution of the sickle-cell gene in populations exposed to endemic malaria transmission is reducible to clear and quantifiable terms. In this review, Trevor Jones examines the prediction of gene frequency changes under selective pressure, the selective advantage to the heterozygote (balanced polymorphism) that the sickle-cell gene provides to individuals in areas with malaria transmission, and the relationship between sickle-cell gene frequency and malaria, as measured by, for example, sporozoite rate and basic reproduction rate. He seeks to clarify what one can infer about malaria transmission from an analysis of the distribution and inheritance patterns of the sickle-cell gene and sickle-cell disease and under what circumstances these inferences should be made.

Journal Article↗
PubMed1982

Familial severe twenty-nail dystrophy.

Severe nail dystrophy is a recently described acquired nail disorder. The nails are variably involved and may show thinning, thickening, pitting, ridging, koilonychia, opalescence, and loss of luster. Not uncommonly, some nails are completely spared. Although most of the cases reported were among children, and nail changes showed gradual resolution, in a few cases the disorder is seen in adulthood. We recently investigated a pedigree extending through five generations in which twenty-one of the thirty-seven members were variably afflicted with the dystrophic nail changes. To our knowledge, the familial pattern, inherited as an autosomal dominant trait, has never been previously reported. We propose the term "familial severe twenty-nail dystrophy" for the disorder in this family.

Adult↗
PubMed1984

Lingual lesions of generalized pustular psoriasis. Report of five cases and a review of the literature.

Geographic tongue and fissured tongue may be mucosal manifestations of generalized pustular psoriasis. All three disorders have polygenic inheritance patterns and affected patients may share genes. Five patients in three families with geographic tongue, fissured tongue, and generalized pustular psoriasis are described and the lingual lesions of generalized pustular psoriasis are reviewed.

Adult↗
PubMed1987

A kindred with alopecia, keratosis, pilaris, cataracts, and psoriasis.

Three members of a family with numerous ectodermal abnormalities are described. These anomalies primarily include patchy alopecia beginning in childhood, premature cataracts, widespread keratosis pilaris, and psoriasis. The alopecia and premature cataracts appear to follow an autosomal dominant inheritance pattern with incomplete penetrance and appear to be linked. Psoriasis also occurs in several members of this family and probably represents a separate but possibly related genodermatosis. This kindred has features of both keratosis follicularis spinulosa decalvans and ichthyosis follicularis, and the disorder seems to fit into the group of follicular hyperkeratosis disorders.

Adult↗
PubMed1988

Generalized lentiginosis.

A patient with generalized lentiginosis and no other associated problems is described. The various syndromes and anomalies associated with generalized lentiginosis are reviewed. Inheritance patterns, long-term prognosis, and recommendations for evaluation and follow-up are discussed.

Abnormalities, Multiple↗
PubMed1988

Biology of hypopigmentation.

A review of the basics of pigment cell biology is followed by a discussion of the characteristics of several disorders of hypopigmentation. By determining such features as inheritance pattern, time of onset (congenital, childhood, adulthood), natural history (stable vs progressive), type of pigment loss (diffuse or circumscribed), distribution of lesions (generalized vs localized), degree of pigment loss (incomplete or complete), number of melanocytes, if any, in biopsy specimens of affected areas, type of melanocytic dysfunction, and associated inflammation or infection, one can classify the disorders of hypopigmentation. The proposed pathophysiology for each disorder of hypomelanosis is presented.

Humans↗
PubMed1989

Non-von Recklinghausen's neurofibromatosis resembling a giant pigmented nevus.

We report the case of a 30-year-old female patient with non-von Recklinghausen's neurofibromatosis. In our opinion it does not fit within a system of classification recently described. Clinically, the abnormality resembled a giant pigmented nevus; however, light- and electron microscopy findings were consistent with those of a neurofibroma. No other symptoms of classic neurofibromatosis or other diseases were present. The family history showed no evidence of neurofibromatosis. To the best of our knowledge this manifestation of non-von Recklinghausen's neurofibromatosis has not been previously described. The cause and the inheritance pattern of this variant are not clear.

Adult↗
PubMed1994

A new clinical disorder of twisted and rolled body hairs with multiple, large knots.

BACKGROUND: We present a new hair disorder characterized by an unusual twisting and matting of body hairs. This disorder may occur as an acquired or, possibly, an inherited trait. OBJECTIVE: Our purpose was to analyze the clinical features of three patients and report the changes revealed by light microscopy and scanning electron microscopy. METHODS: We examined two unrelated adults with acquired multiple large knots of body hairs and a newborn infant with a familial history of the same entity. RESULTS: In the two adults the hairs were rolled and knotted together, and twisting of body hairs occurred in areas where rubbing was frequent. In the familial type, which was suggestive of an autosomal dominant inheritance pattern, no mechanical explanation could be found. Light microscopy confirmed the clinical impression of twisted and felted hairs, and scanning electron microscopy revealed sticking of at least 20 hairs. No underlying skin disease or deeper process was found. CONCLUSION: Multiple twisted and rolled body hairs that may develop into multiple, large knots may appear as a minor variant of hair matting or felting. Scanning electron microscopy shows multiple hairs that originate from different hair follicles and roll and stick together centrally.

Aged↗
PubMed1987

Congenital and acquired neuromuscular disease of young dogs and cats.

Neuromuscular disorders in small animals include a diverse group of congenital and acquired diseases. The prognosis will vary according to the disorder and the portion of the motor unit affected. A number of diseases might be satisfactorily treated (for example, myasthenia gravis, congenital myotonia), whereas others may be self-limiting (for example, hereditary myopathy of Labrador Retrievers). Accurate diagnosis is necessary for establishing a prognosis and treatment plan suitable to the patient and client. Specific diagnosis in the absence of specialized tests is difficult, although not always impossible (for example, congenital myotonia in the Chow Chow). A knowledge of the neuromuscular diseases that might affect small animals, a detailed history, and a thorough physical examination will help in the presumptive diagnosis. Specialized laboratory examinations may need to be applied (for example, antiacetylcholine receptor antibody titer for acquired myasthenia gravis). Referral may be necessary for more detailed diagnostic workup (for example, electromyographic examination, nerve or muscle biopsy examination). In the case of inherited neuromuscular disorders, a knowledge of inheritance patterns will allow genetic counseling to avoid future problem breedings.

Animals↗
PubMedDate not supplied

Familial incidence of labial pits.

Congenital pits of the lower lip are rare malformations, inherited in an autosomal dominant fashion (penetrance approximately 80 per cent), and closely associated with cleft lip, cleft lip/palate, or isolated cleft palate. The phenomenon of paramedian labial pits is discussed, and an example of inheritance pattern is reported.

Child↗
PubMed2003

Genetic control of interleukin-4-induced activation of the human signal transducer and activator of transcription 6 signaling pathway.

The interleukin (IL)-4-induced Stat6 signaling pathway is active in a variety of cell types, including immune cells and cancer cells, and plays an important role in the regulation of gene expression, such as CD23 and major histocompatibility complex class II. Using a semiquantitative gel shift assay in which nuclear Stat6 activities were scored, three Stat6 activation phenotypes were defined as Stat6(high) (intense banding), Stat6(low) (medium intensity banding), and Stat6(null) (very low to no discernible banding). These Stat6 phenotypes correlated well with levels of CD23 expression, but not with those of human leukocyte antigen-DR cell-surface display. Pedigree analyses revealed a Mendelian inheritance pattern that can be explained by two STAT6 Pathway (STAT6P) activation genotypes, which we term A and a, where STAT6P*A determines an active Stat6 signaling and STAT6P*a determines an inactive Stat6 signaling, with incomplete dominance. Total Stat6 protein levels failed to correlate with the above Stat6 phenotypes allowing us to propose that IL-4-induced Stat6 signaling is a polygenic quantitative trait regulated by a collection of several contributing genetic loci that functionally interact. The Stat6(null) phenotype may result from a defect in Stat6 signaling, which has important implications with respect to the pathogenesis of cancer and Th1/Th2 cytokine imbalance in autoimmune diseases in general.

Cell Line, Transformed↗