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At least 775 records · Page 43Linked to original sources
PubMed1991

Mortality in hereditary antithrombin-III deficiency--1830 to 1989.

To determine whether antithrombin-III (AT-III) deficiency leads to an excess mortality, we studied 171 individuals from ten families with a proven hereditary deficiency. 73 were classified as certainly deficient either by direct measurement of AT-III concentration or by mendelian inheritance patterns. 98 individuals had a high probability (0.5) of deficiency. The 64 deaths recorded did not exceed those expected for the general population adjusted for age, sex, and calendar period. We suggest that a policy of prophylactic anticoagulation for patients with AT-III deficiency cannot be recommended.

Adolescent↗
PubMed1984

Allotypic determinants (Igh-3) associated with the IgG2c subclass of rat immunoglobulins.

Rat antibodies to group A streptococcal carbohydrate are primarily of the IgM and IgG isotypes. Hyperimmunization often results in antibodies of a restricted molecular heterogeneity of the IgG2c isotype. An allotypic marker, designated Igh-3a, was detected on the heavy chains of the IgG2c isotype from Copenhagen rats. Igh-3b was detected on the heavy chains of IgG2c from SHR rats. A strain distribution of the Igh-3 determinants as well as inheritance patterns for their expression are presented.

Animals↗
PubMed1987

Cytogenetic instability in a family with gastric cancer recurrence.

An index case with a congenital malformation syndrome enabled detection of a family that had a previous history of spontaneous abortuses and recurrence of neoplasia through three generations. Cytogenetic analysis performed on lymphocytes from 11 subjects in the second and third generation showed karyotypic alterations in both tumor bearers and apparently normal subjects. Chromosome variations consisted of: spontaneous chromosome fragility; chromosome translocations; polymorphisms in the heterochromatic regions in chromosomes Y, #1, #16, #22. The inheritance pattern of all chromosome rearrangements and heteromorphisms observed was established starting with the second generation, and the contribution of specific individuals was identified. Although the relationship between chromosomal instability and predisposition to gastric cancer does not appear to be coincidental, no specific chromosome alteration in normal somatic cells was shared by all members of the family who developed or are at risk of developing tumors.

Adult↗
PubMed1988

Breast cancer diagnosis in a putative obligate gene carrier. A family study.

Hereditary breast cancer is common and accounts for about 8% of all breast cancer. It has a distinctive natural history characterized by early age of onset, excess bilaterality, and vertical transmission consonant with an autosomal dominant inheritance pattern. We describe an informative kindred wherein this knowledge was effectively applied, with resultant high yield: early breast cancer diagnosis in a mother who was a putative obligate gene carrier, and a contralateral breast cancer diagnosis in her daughter. A more intensive stance on breast cancer diagnosis must be employed in members of hereditary breast cancer kindreds who are judged to be at inordinately increased risk. Breast cancer control through application of genetic knowledge is readily achievable in the clinical practice setting.

Adult↗
PubMed1995

Multiple sclerosis and the HLA-D region: linkage and association studies.

Inheritance patterns of multiple sclerosis (MS) in multiplex families suggest a complex aetiology involving environmental and genetically determined components. The association between the HLA class II DR15, DQ6, Dw2 haplotype and MS has been well documented in patients with ancestral origins in Northern Europe. Conversely, linkage analysis of this region in multiplex families, derived from a population base, has generated negative results. Thus, given the Dw2 specificity association, evidence implicating this locus in disease susceptibility appears contradictory. We have collected and determined the HLA-DR and -DQ haplotypes of 115 sibling pairs with multiple sclerosis, and confirm a significant association with the Dw2-associated haplotype, both in index cases and their affected siblings compared with controls. However, using a sibling pair linkage analysis that restricts haplotype sharing probabilities to defined genetic models, we have not observed linkage of this region to susceptibility in MS. We discuss the basis for association and linkage and conclude that the DR15, DQ6, Dw2 haplotype does represent a susceptibility locus but its contribution to the pathogenesis is small; although it may interact epistatically with other susceptibility genes, this haplotype is not necessary for disease expression.

Adult↗
PubMed1992

The focal facial dermal dysplasias: report of a kindred and a proposed new classification.

BACKGROUND: The focal facial dermal dysplasias (FFDD) are a genetically heterogeneous group of disorders characterized by congenital bilateral scarlike facial lesions, with or without associated facial anomalies. The cases have been reported under various names; thus the nosology is confusing and unclear. OBJECTIVE: Our purposes were to report our kindred, clearly delineate the various types of FFDD reported, and propose a new simplified classification. METHODS: The clinical and histologic changes were examined and genealogy determined for our kindred. The medical literature was reviewed and the reported cases reexamined and categorized according to their clinical features and inheritance patterns. RESULTS: We determined that there are three distinct varieties of FFDD: type I, autosomal dominant FFDD; type II, autosomal recessive FFDD; and type III, FFDD with other facial features. CONCLUSION: We propose a new classification and provide evidence for three distinct varieties of FFDD: type I, autosomal dominant FFDD; type II, autosomal recessive FFDD; and type III, FFDD with other facial features (Setleis syndrome). Our kindred represents type II.

Child, Preschool↗
PubMed1993

Partial unilateral lentiginosis.

BACKGROUND: We review our experience with nine patients with partial unilateral lentiginosis (PUL), a rare pigmentary disorder. OBJECTIVE: Our purpose was to define the characteristics of PUL and to discuss the differential diagnosis. METHODS: The records of nine patients with PUL were reviewed. A literature review on diagnosis, association with other disorders, and differential diagnosis is presented. RESULTS: PUL is a rare benign disorder that has no known inheritance pattern and has no commonly associated abnormalities. CONCLUSION: Careful history and physical examination may enable the distinction between PUL, nevus spilus, and other more serious genetic disorders associated with lentiginosis.

Adolescent↗
PubMed1982

HLA-DR, D recombination in a kidney transplant recipient.

Immunogenetic studies of a consanguineous family revealed discordance in the inheritance pattern of the HLA-D and HLA-DR antigens in one offspring. The findings suggest a recombination between the HLA-D and HLA-DR loci in one of the paternal chromosomes. Results on segregation of B-cell alloantigens. MLC reactivity, and glyoxalase isoenzyme determination map the DR gene between the HLA-B and D loci.

Chromosome Mapping↗
PubMed1988

Multiple odontogenic keratocysts in a patient with type II (mitis) Ehlers-Danlos syndrome.

Ehlers-Danlos syndrome (EDS) is now considered to be a heterogeneous collection of fundamentally distinct disorders. The many and varied sub-types of EDS have been distinguished using clinical, genetic and in some cases biochemical criteria and this has important implications as regards prognosis and the prediction of inheritance patterns. The major clinical features of EDS are reviewed, with particular emphasis placed on the possible complications encountered in the practice of oral surgery. A case of Type II mitis EDS is described, that presented with multiple odontogenic keratocysts.

Adult↗
PubMed1983

A hemophiliac dog colony: genetic studies and coagulation findings in hemophiliac and normal dogs.

A colony of hemophiliac dogs was developed as descendants of a single affected Pomeranian. Over a 13 year period, a total of 29 hemophiliac dogs survived to the age of 6 months or longer. Eleven were female and 18 were male. All five of the possible matings in a sex-linked recessive inheritance pattern were accomplished and the offspring fell into the expected sex and disease groups. Twenty-one dogs died from untreated hemorrhages which usually occurred in loose tissues or body cavities during the night. Clinically, there were no hemarthroses but 22 other hemorrhages responded promptly to treatment with dog cryoprecipitate. Coagulation studies showed that the hemophiliac dogs averaged about 0.23 U/ml equivalents of human F VIII:C while normal dogs averaged 8.0 U/ml equivalents of human. F's V, VII, II, X, IX, XI and XII were higher than human in both normal and hemophiliac dogs. Dog fibrinogen fell within the human range and Fletcher F was very low.

Animals↗
PubMed1995

Twin sisters with impetigo herpetiformis.

Impetigo herpetiformis is a rare and serious pustular eruption resembling pustular psoriasis that mostly occurs in pregnant women. The etiology of the disease is unclear and it is not known if genetic factors play a role. We present two sisters (twins) with impetigo herpetiformis supporting an inheritance pattern.

Adult↗
PubMed1996

Neostriatal dopamine depletion and locomotor abnormalities due to the Albino Swiss rat agu mutation.

The sub-strain of Albino Swiss rat (AS/AGU) is a spontaneous mutation characterised by an ungainly, staggering gait, hindlimb rigidity, whole body tremor and (when symptoms are fully developed) difficulty in initiating movement; it exhibits a progressive decrease in dopaminergic cells within the substantia nigra. A breeding programme involving Albino Swiss (AS) and AS/AGU parent rats was used to produce the F1 offspring of AS x AS/AGU matings and, subsequently, F1 x AS/AGU back crosses. When adult, the movement of all animals was assessed blind by observers on three occasions, each animal being identifiable by a subcutaneous transponder implanted before weaning. All AS/AGU and half the F1 x AS/AGU back cross animals had abnormal gait, while all AS, F1 and the remaining F1 x AS/AGU backcross animals showed normal gait, implying that the mutation is recessive. Brains of males aged 12-15 months (n = 10 per group) were sectioned transversely on a cryostat (-20 degrees C) to produce a cut face just caudal to the anterior commissure (approximately Bregma -0.5 mm) and 1 mm diameter x 1 mm deep micropunches were taken from three areas of the caudate-putamen. Levels of dopamine were measured in all samples by high performance liquid chromatography with electrochemical detection (HPLC-ECD) followed by protein estimation. Levels of dopamine in the dorsal and middle caudate-putamen varied according to a simple inheritance pattern, being high in males from AS, F1 and F1 x AS/AGU back crosses without locomotor impairment, but lower in AS/AGU and F1 x AS/AGU back crosses with disordered gait. Dopamine levels in the ventral caudate-putamen did not show such a clear variation.

Animals↗
PubMed1996

Exclusion of p75NGFR and other candidate genes in a family with hereditary sensory neuropathy type II.

Hereditary sensory neuropathy Type II (HSN II) is an autosomal recessive disorder characterized by the loss of peripheral sensory modalities in individuals with otherwise normal development. Patients with HSN II often have chronic ulceration of the fingers and toes, autoamputation of the distal phalanges, and neuropathic joint degeneration associated with loss of pain sensation. Recent descriptions of a similar phenotype in mice carrying a targeted mutation in the low affinity nerve growth factor receptor, p75NGFR, suggested the possibility that mutations in this gene or other members of the nerve growth factor (NGF) family of genes and their receptors might be responsible for this human disorder. In this study candidate genes were evaluated by their inheritance pattern in two sisters affected with HSN II, their unaffected sister and mother in a consanguineous family. The segregation of polymorphic alleles at and around loci for p75NGFR, TRKA, TRKB, BDNF, and familial dysautonomia (another hereditary sensory neuropathy having features in common with HSN II) virtually excluded these genes as the cause of HSN II in this family. Further evaluation of loci for other neurotrophic factors and their receptors, which will be possible when mapping information on their loci becomes available, may permit the identification of the gene responsible for HSN II.

Autonomic Nervous System Diseases↗
PubMed1986

Metabolic defects in severe combined immunodeficiency in man and animals.

Severe combined immunodeficiency (SCID) was originally thought to be one disease. Accumulating evidence indicates that SCID is a heterogeneous group of diseases that are clinically similar but are caused by quite different biochemical abnormalities. The best-studied form of SCID is that associated with an autosomal recessive inheritance pattern of adenosine deaminase (ADA) deficiency. Several biochemical mechanisms have been postulated to explain how a deficiency of ADA causes immune dysfunction. In forms of SCID not associated with ADA deficiency, other biochemical abnormalities have been detected. These abnormalities include deficiency in biotin-dependent carboxylases, alteration in lymphocyte surface membranes and irregularities in cytokine production. Two animal models for SCID now exist. Neither of these models is associated with ADA deficiency. Evidence for a possible defect in purine metabolism in one model has been demonstrated.

Adenosine Deaminase↗
PubMed1992

Arm anomalies and bone marrow failure may go hand in hand.

Children with congenital anomalies involving the hand, the forearm, or both are often seen by hand surgeons. An unknown proportion have inherited bone marrow-failure syndromes, such as Fanconi's anemia, Diamond-Blackfan anemia, thrombocytopenia-absent radii, and others. In many cases the hematologic cytopenias are not yet apparent at the time of surgery. This review discusses these syndromes, summarizing the types of malformation, the types of hematologic complication, and the ages at which they occur. There are often clues in otherwise normal hematologic data, such as macrocytic red cells or slow decreases in blood counts that are still at a level at which surgery can be performed. Early and often presymptomatic diagnosis is of value for the planning of staged surgery before cytopenias preclude intervention, the performance of surgery after hematologic improvements, and genetic counseling for young families in which syndromes with a known inheritance pattern might be detected in utero. Hand surgeons may be the first to make these important diagnoses.

Adolescent↗
PubMed1996

Cerebellar dysplasia and unilateral cataract in Marinesco-Sjögren syndrome.

The classic features of Marinesco-Sjögren syndrome include bilateral cataracts, cerebellar ataxia, and mental deficiency with an autosomal recessive inheritance pattern. Weakness and a variety of other characteristics are present inconsistently. A limited number of neuroimaging studies have indicated that cerebellar hypoplasia is the most common finding. We report a patient with near normal intelligence, unilateral cataract, and the previously unreported magnetic resonance imaging findings of cerebellar dysplasia, arachnoid cyst, and absent septum pellucidum. A review of the literature suggests significant heterogeneity in the Marinesco-Sjögren syndrome.

Cataract↗
PubMed1995

The PML gene is linked to a megabase-scale insertion/deletion restriction fragment length polymorphism.

The PML gene located on chromosome band 15q22 is involved with the RAR alpha locus (17q21) in a balanced reciprocal translocation uniquely observed in acute promyelocytic leukemia. Physical mapping studies by pulsed-field gel electrophoresis revealed that the PML gene is flanked by two CpG islands that are separated by a variable distance in normal individuals. Several lines of evidence demonstrate that this is the consequence of a large insertion/deletion polymorphism linked to the PML locus: (1) overlapping fragments obtained with a variety of rare-cutting restriction enzymes demonstrated the same variability in distance between the flanking CpG islands; (2) mapping with restriction enzymes insensitive to CpG methylation confirmed that the findings were not a consequence of variable methylation of CpG dinucleotides; (3) the polymorphism followed a Mendelian inheritance pattern. This polymorphism is localized 3' to the PML locus. There are five common alleles, described on the basis of BssHII fragments, ranging from 220 to 350 kb with increments of approximately 30 kb between alleles. Both heterozygous (61%) and homozygous (39%) patterns were observed in normal individuals. Megabase-scale insertion/deletion restriction fragment length polymorphisms are very rare and have been described initially in the context of multigene families. Such structures have been also reported as likely regions of genetic instability. High-resolution restriction mapping of this particular structure linked to the PML locus is underway.

Alleles↗
PubMedDate not supplied

Update on inborn errors of metabolism: primary lactic acidemia.

Initially thought to be rare, primary lactic acidemia is diagnosed with increasing frequency. Elevations in lactate and pyruvate are markers for a variety of metabolic blocks. Although there have been great strides made in the diagnosis and treatment of lactic acidemia, much remains to be learned. As laboratory techniques improve, clinicians will be able to make an exact enzymatic diagnosis on an increasing percentage of patients. Specific enzymatic diagnosis also will help clinicians determine inheritance patterns, recurrence risks, and methods of prenatal diagnosis.

Acidosis, Lactic↗