PubMed Health⌕ Search

SEARCH · PubMed Health

Results for “Consanguinity”

Explore indexed PubMed citations for clinical trials, systematic reviews and public health research. Read source abstracts and follow each citation to its original PubMed record.

Quote a phrase for an exact phrase match. Source license links do not imply unrestricted reuse.

At least 415 records · Page 23Linked to original sources
PubMed1996

Familial exudative vitreoretinopathy linked to D11S533 in a large Asian family with consanguinity.

Familial exudative vitreoretinopathy (FEVR) is a disorder characterised by peripheral retinal vascularisation with subsequent traction of retinal vessels and detachment. Recently, autosomal dominant FEVR (ad FEVR) has been mapped to 11q13 by linkage in four northern European families. We describe a large consanguineous Asian family in which the severity of the proband's eye disease suggested homozygosity for a disease allele. Thirty family members were assessed by ophthalmological examination and fluorescein angiography. Thirteen had unequivocal features of FEVR. A further two were classified as unknown. Two point linkage analysis for DIIS533 and FEVR generated a lod score of 5.55 at a recombination fraction of 0.00. This supports autosomal dominant inheritance and demonstrates genetic homogeneity for the ad FEVR disease locus. The severely affected proband was heterozygous for alleles at this closely linked locus. Other causes, including non-genetic factors, should be considered to explain the extreme variability characteristic of ad FEVR.

Adolescent↗
PubMed1999

Bladder carcinoma in Costello syndrome: report on a patient born to consanguineous parents and review.

We report on a 12-year-old boy with Costello syndrome born to consanguineous (first cousins once removed) parents, supporting the hypothesis of recessive transmission of this syndrome. At age 11 years, the patient developed a bladder carcinoma, a rare pediatric tumor not previously described in Costello syndrome. This suggests that an increased risk of malignancy may be part of this condition.

Adolescent↗
PubMed1999

Recurrence of the severe form of microgastria-limb reduction defect in a consanguineous family.

This report concerns two sibs from a consanguineous Sudanese family with microgastria-limb reduction defect associated with hydrocephalus and agenesis of corpus callosum. We suggest that these cases together with other previously reported cases of central nervous system (CNS) anomalies associated with microgastria-limb reduction defect could represent an autosomal recessive syndrome differing from the classical microgastria-limb reduction defect by its severity, presence of CNS anomalies and its pattern of inheritance.

Abnormalities, Multiple↗
PubMed2003

The relationship between periodontal status and peripheral levels of neutrophils in two consanguineous siblings with severe congenital neutropenia: case reports.

Congenital neutropenia is characterized by a severe reduction in absolute neutrophil counts, resulting in an almost total absence of neutrophils. It is well known that severe neutropenia affects periodontal status. Oral manifestations include ulcerations, gingival desquamation, gingival inflammation, attachment loss, and alveolar bone loss which may result in tooth loss. Treatment with granulocyte-colony stimulating factor (G-CSF) may improve this periodontal condition. This article reports the relationship between periodontal disease status and peripheral neutrophil levels in two consanguineous siblings with severe congenital neutropenia who did not receive routine G-CSF for 2 years prior to examination. Both siblings were given scaling, root planing, and periodontal prophylaxis in regular follow-up visits. This report demonstrates that periodontal therapy supported by adequate oral hygiene may result in restoration of neutrophil counts in siblings with congenital neutropenia.

Adolescent↗
PubMed1976

[Consanguineous analysis of oligophrenia].

Consanguineous analysis of 214 cases of oligophreny has shown a statistically significant higher level of inbreeding in a population of oligophrenes as compared to the general population. No linear dependence was observed between the degree of oligophrenic defect and the inbreeding coefficient. A high statistically significant level of inbreeding was established in cases of familial oligophreny as compared to sporadic oligophreny. A probability of the existence of the genes of oligophreny linked with the X-chromosome is not excluded.

Chromosome Aberrations↗
PubMed1992

[Effects of consanguineous marriages on hereditary diseases: a study of the Han ethnic group in different geographic districts of Zhejiang Province].

The frequency and effects of hereditary diseases of consanguineous marriage (CM) in 210 965 Han nationality people in different districts of Zhejiang province were investigated. Of 44342 couples in three different regions, 951 (2.14%) were proved to be of CM. The frequency of CM was 3.02% in Mi as against 1.13% in Pi and 2.50% in Ii. There were 19 types and 81.07% of CM occurred in the first cousins, of which 0.95% occurred in semisiblings. The frequency of hereditary disease and the mortality before the age of 20 in the offsprings of CM were significantly higher than those of non-CM (P < 0.01). 104 types of hereditary disease and congenital malformation were found. The frequency of mental retardation was 2/1000. There were 197 high risk families which contained 19-types of hereditary disease.

China↗
PubMed1992

Familial resemblance of blood pressure with residual household environmental effects in consanguineous and nonconsanguineous families from Andhra Pradesh, India.

Familial aggregation of blood pressure (BP), both systolic (SBP) and diastolic (DBP), was examined in consanguineous and nonconsanguineous families from southern India. Path analysis of BP suggests inbreeding effects, with the genetic variance for SBP being lower in the sample that included inbred families. Specifically, genetic heritability for SBP was 38% in the nonconsanguineous sample but only 23% in the combined sample. Genetic heritability for DBP (30%) did not vary by sample, nor were sample differences in cultural heritability detected for either SBP (over 35%) or DBP (about 18%). These findings are remarkably similar to those in a French-Canadian population of Quebec; both reports found a considerably larger effect of the home environment on BP than previous studies.

Blood Pressure↗
PubMedDate not supplied

Cutis laxa of the autosomal recessive type in a consanguineous family.

Cutis laxa comprises a group of uncommon disorders of elastin fibers first described by Graf in the early 19th century. The main characteristic is a redundant, loose skin with deep wrinkling or sagging combined with a variable systemic involvement. Histopathologic examination presents various abnormalities of the elastin fibers. We distinguish congenital as well as acquired forms of generalized or localized cutis laxa. The mode of inheritance shows great heterogeneity: autosomal dominant, autosomal recessive and X-linked recessive inheritance have all been described. We present a severe case of autosomal recessive type 1 cutis laxa in a female patient, born in a large, consanguineous Turkish family, where three other family members had already died of the disease. A missense mutation of fibulin-5 was identified in this patient.

Consanguinity↗
PubMed2006

[Consanguinity of sixteen olethreutid moth species in northeast China based on RAPD-PCR analysis].

With RAPD-PCR technique, the phylogenetic tree of 16 olethreutid moth species in northeast China was constructed, and their consanguinity was analyzed. The results showed that the clustering of 3 Pandemis species,2 Argyrotaenia species and 4 Archips species on this phylogenetic tree was coincident with their morphological taxology, but that of some other species was not. For example, Clepsis rurinana and C. pallidana were not on the same clade, but on the clade with Pandemis cinnamomeana and Ptycholoma imitartor, respectively. Genetic distance could be an index for genus, and 0.7 was the boundary. The species genetic distance from the same genus was less than 0.7, while that from different genus was more than 0.7.

Animals↗
PubMed1989

Epidemiological observations of consanguinity and retinoblastoma in Arabia. A retrospective study.

Medical records of 136 Arabian children with retinoblastoma managed at the Joint Board and Specialist Hospitals in Riyadh over a 12-year period (1975-1987) were retrospectively reviewed. Late age at diagnosis, consanguinity amongst the parents of affected children and other epidemiological features of the neoplasm are discussed and compared to previously published reports from different parts of the world. Public education about early signs and symptoms of the disease as well as routine retinal examination of infants for early detection of the neoplasm and prevention of unnecessary complications are recommended.

Child↗
PubMed1979

[Genetic counseling in consanguinous marriages].

The authors report their own experience as regard to the genetic counseling for consanguineous marriages. They observe that outpatients still marry and procreate despite the medical advices.

Consanguinity↗
PubMed1983

Hurler-Scheie phenotype with parental consanguinity. Report of an additional case supporting the concept of genetic heterogeneity.

The Hurler-Scheie phenotype in a 27-year-old woman of first-cousin parentage is possibly the first reported in the orthopedic literature. The patient exhibited short stature, coarse facies, corneal clouding, multiple stiff joints, normal intelligence, and a long history of bilateral carpal tunnel syndrome, which has not been relieved after operation. The irreversible nerve damage was apparently produced by the marked thickening of the transverse carpal ligament. Surgical findings in this case and data from published reports emphasize the need for early surgical treatment of the associated carpal tunnel syndrome in patients with the Hurler-Scheie phenotype. Parental consanguinity present in this patient is further evidence supporting the concept of a third mutant allele different from both the Hurler gene and the Scheie gene.

Adult↗
PubMed1983

Incidence of classic PKU in Italy estimated from consanguineous marriages and from neonatal screening.

As already described for cystic fibrosis and Friedreich ataxia, the incidence of PKU in Italy has been estimated by determining the increase of consanguineous marriages among 178 couples of PKU parents over the frequencies carefully established for the same marriages in the general Italian population for each of the 95 provinces during a 55-year period. The incidence estimated (between 1/15595 and 1/17815 according to two different formulas) is not very different from the incidence derived from screening programs (almost 1/12000). This indicates that the former method can be applied in Italy to the study of the incidence of other autosomal recessive disorders.

Consanguinity↗
PubMed1981

[Consanguineous marriages, inbreeding and its effects in the Taimyr Nganasans].

Genealogy, marriage structure, inbreeding and its effects in Taimyr Nganasans have been studied in detail. The population size in 715. 223 pairs were analysed. Uncle-niece and first cousin marriages were absent. Marriage frequency of second cousins and more remote relatives is 20.0%. Average inbreeding coefficient of the population is 0.0022 with some variation among three subpopulations (0.0015-0.0027). Consanguineous marriages are characterized by lower average number of livebirths, living children, stillbirths and miscarriages. There are some difficulties in the interpretation of the differences received because of a higher incidence of repeated marriages between relatives; 6 cases of hereditary diseases were registered among the offsprings of nonconsanguineous marriages, including two cases with one parent inbred.

Consanguinity↗
PubMed1981

Alcaptonuria and sucrase-isomaltase deficiency in three offspring of a consanguineous marriage.

Intestinal brush border membrane hydrolases and HLA lymphocyte antigens have been examined in three siblings with sucrose intolerance and alcaptonuria, and their consanguineous parents. Sucrase-isomaltase activity was absent in the three patients, and corresponded with the gel electrophoresis of SDS-solubilized brush border membranes, which failed to demonstrate the protein band normally associated with sucrase-isomaltase complex. The activities of all brush border membrane enzymes in the mother were normal, while those of the father were generally low. The use of hydrolytic capacity ratios, however, permitted the designation of both parents as heterozygotes. Significant homogentisic aciduria was found only in the three propositi, and no effect of homogentisic acid on the sucrase activities of two normal, unrelated children could be demonstrated in vitro. The HLA lymphocyte antigen profiles of all seven family members demonstrated remarkable histocompatibility in five of them.

Adolescent↗
PubMed1980

Consanguinity analysis of congenital deafness in Northern Israel.

Consanguinity analysis of heterogeneous populations was performed on a group of 82 Israeli Jewish families with congenitally deaf probands, including 37 multiplex families with normal parents, 10 multiplex families with deaf parents, and 35 simplex families with deafness of unknown cause. Representative gene frequency was estimated as .0198, with two to four major gene loci per ethnic group. In both the simplex families and those with deaf parents, the only significant etiology found was homozygosity for pathologic recessive genes. Comparison of these findings in Israeli isolates with those in panmictic populations seems to imply that the genetic loci are not identical in the various isolates.

Chromosome Mapping↗
PubMedDate not supplied

[Hypermethioninemia. Apropos of a case in a consanguineous couple].

We describe a female child from a consanguineous marriage (uncle-niece) with hypermethioninemia and hypermethioninuria without homocystinuria. She had several signs and symptoms previously undescribed in this pathology as growth retardation, generalized hypotonia, digestive disturbances, white skin, hypochromia of iris, thin, sparse and blond scalp hair. The pedigree suggests an autosomal recessive inheritance pattern.

Consanguinity↗