Search PubMed⌕ Search

SEARCH · Search PubMed

Results for “Consanguinity”

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 1,153 records · Page 64Linked to original sources
PubMed2000

Premarital genetic investigations: effect of genetic counselling.

Over a period of 2 years, 86 couples (172 cases) were referred to the genetics clinic of the National Research Centre for premarital genetic counselling. About 73.25% had a family history of different genetic disorders. Consanguinity was found in 86.04%. Genetic investigations revealed chromosomal abnormalities in 26 cases (15.11%); 23 cases (13.37%) had other abnormal results. After genetic counselling, postconceptional follow-up was carried out for 30 couples; 10 of them required amniocentesis that showed abnormal fetuses in 2 mothers. Other couples had normal offspring. We conclude that premarital genetic counselling is of great use in the detection of genetic disorders and is an essential step in changing attitudes towards premarital testing and reducing consanguineous marriage.

Adolescent↗
PubMedDate not supplied

[The incidence of Usher's syndrome and its clinical types].

OBJECTIVES: We investigated the incidence and types of Usher's syndrome in normal, hearing handicapped, and visually handicapped individuals. SUBJECTS AND METHODS: Usher's syndrome was investigated among 115,000 healthy young males who were screened prior to military service, among patients in whom retinitis pigmentosa was diagnosed at the Ophthalmology Department of Ege University, and among the students of Izmir Tülay Aktaş School for the Deaf and Izmir Aşik Veysel School for the Blind. Patients with retinitis pigmentosa were evaluated by comprehensive history taking, pedigree drawing, ophthalmologic and otolaryngologic examinations, audiovestibular tests, and electroretinography. RESULTS: Usher's syndrome was detected in only one subject among candidates of military service, in six subjects among 386 students of School for the Deaf, and in three cases among 30 patients with retinitis pigmentosa. None of the students of the School for the Blind had Usher's syndrome. Screening of the patients' family members revealed eight families with Usher's syndrome, yielding a total of 15 patients. Consanguinity was documented in five families. Eleven patients (73%) had type 1 and four patients (27%) had type 2 disease. Type 3 disease was not encountered. CONCLUSION: Investigation of Usher's syndrome in patients with hearing loss and impaired vision in the dark will promote better rehabilitation and monitoring of these patients. Consanguinity should be sought in affected individuals.

Adolescent↗
PubMedDate not supplied

[Genetic sensorineural hearing loss in childhood].

OBJECTIVES: This study aimed to determine the severity, age of presentation, and genetic etiology in hearing handicapped children. PATIENTS AND METHODS: Three groups of children were studied: children who received treatment for hearing loss at the Otolaryngology Department of Ege University Hospital between 1993 and 1999 (1645 children) and throughout 2000 (212 children), and 443 students of Izmir Tülay Aktaş Deaf School during 1998 and 1999. All the children underwent otolaryngologic examination and a detailed history taking, audiometric examinations were undertaken in the second and third groups, as well. In children suspected of having a genetic etiology, the pedigrees were drawn and the mode of inheritance was determined. RESULTS: In the first group, awareness of the families to hearing loss and the presentation were at ages two and four, respectively. The most common accompanying anomaly was Down syndrome. Consanguinity was found in 27%, 8%, and 33%, respectively. Moderate to severe hearing loss was detected in 44% of the second group, and in 28% of the third group. Of the pedigrees obtained from 123 families, 86 were nonsyndromic and 27 were syndromic. CONCLUSION: Genetic inheritance plays a substantial role in sensorineural hearing loss in children, with consanguinity being the major culprit. Detection of hearing losses at younger ages will improve the success of hearing rehabilitation programs.

Adolescent↗
PubMed2003

[Genetic subdivision of Dagestan ethnic populations].

Relationships between ethnic and genetic differentiation with respect to 54 microsatellites have been analyzed in five Daghestan ethnic groups. To detect the microsatellites, human chromosomes 3, 17, and 18 were screened with a step of 10 cM (Weber/CHLC 9.0 markers) at the Mammalian Genotyping Service (National Institute of Health, United States). Comparison of the polymorphism of these loci in Daghestan populations with average worldwide data has revealed generally low heterozygosity in Daghestan populations, which is accounted for by traditional endogamous and consanguineous marriages throughout the history of these populations. The inbreeding coefficient in Daghestan ethnic groups varies from 0.005 to 0.0134 and is close to the worldwide maximum known to date. For some DNA loci, significant differences between the offsprings of consanguineous and exogamous marriages with respect to allele sizes and their variance have been found. The Daghestan ethnic populations studied differ from one another in both the frequencies of common alleles and the presence of rare alleles that are unique for each ethnic group of Daghestan and have not been found in any other population in the world.

Alleles↗
PubMed2001

Major birth defects among infants with Down syndrome in Alexandria, Egypt (1995-2000): trends and risk factors.

We evaluated the hypothesis that the trisomy 21 genome interacts with environmental factors during early pregnancy to increase the risk for birth anomalies in Down syndrome infants in Alexandria, Egypt. A case-control study on 514 infants with confirmed Down syndrome was carried out from 1 July 1995 to 30 June 2000. Genetic, biological, environmental and reproductive factors were analysed. Multiple logistic regression analysis showed the following factors to be independently associated with increased risk of congenital heart diseases among Down syndrome patients: parental consanguinity, maternal parents' consanguinity, mother's antibiotics use in pregnancy, oral contraceptive use and diabetes in the mother. Fever in the mother during pregnancy was associated with increased risk of gastrointestinal anomalies.

Abnormalities, Multiple↗
PubMedDate not supplied

Primary hemophagocytic lymphohistiocytosis in Turkish children.

Nineteen children with hemophagocytic lymphohistiocytosis (HLH) were studied in the Department of Pediatric Hematology, Hacettepe University. Patients were divided into two groups. Group 1: Thirteen patients were classified as having a genetic etiology (7 familial, 6 presumed familial) on the basis of an affected sibling and consanguinity. There was a history of consanguineous marriage in 13 of the families. Seven of them had a history of a sibling with HLH. Group 2: Six patients were diagnosed with sporadic HLH. The age at presentation for familial patients was 0.7-84 months (mean 21.9 +/- 24.9 months), and for sporadic cases it was 2.5-48 months (mean 22.7 +/- 19.8 months). The clinical and laboratory data of these two groups were similar at diagnosis. Thirteen cases were diagnosed premortem by bone marrow aspiration. Splenic biopsy was performed in 2 patients. Four patients were diagnosed by postmortem examination. Elevated LDH levels were found in all patients tested. No significant differences for clinical and laboratory data were found between the two groups.

Bone Marrow↗
PubMed1975

[Inbreeding characteristics of thepopulation and the distribution of schizophrenia in one of the rural regions of Azerbaijan].

The investigation was carried out in Pushkin region of Azerbaijan SSR. The coefficient of inbreeding was found to be 0,01142 in 2 typical villages; the frequency of consanguineaous marriage in both villages was 30+. The occurence of consanguineous marriage is explained by a little migration of the population, large families and a stability of marriage traditions. An increased frequency of parental consanguinities of sporadic schizophrenic patients in comparison with the average one was found. This indicates the determination of some cases by rare recessive genes.

Azerbaijan↗
PubMedDate not supplied

Congenital cutis laxa syndrome: type II autosomal recessive inheritance.

Cutis laxa is a term that refers to markedly loose skin that is not hyperelastic. It is regarded as a genetically heterogeneous group of diseases and is presently divided into five types. We report a male patient with type II autosomal recessive disease. The patient was the third child of first-cousin consanguineous, healthy parents. His two siblings died a few hours after birth. One of the siblings also had similar features and wrinkled skin. Our case had markedly loose and wrinkled skin especially over the dorsum of the hands and feet, and on the face and abdomen, dolichocephaly, hypertelorism, blepharochalasis, long filtrum, pectus excavatus, large fontanelles, prominent low-set ears and umbilical hernia. These findings and skin biopsy were consistent with cutis laxa syndrome. In addition to these findings, consanguinity, atypical facies, large fontanelles and umbilical hernia were typical manifestations of type II autosomal recessive cutis laxa.

Consanguinity↗
PubMed2004

[An association of apolipoprotein B with pulse pressure in Chinese pedigrees with familial combined hyperlipidemia].

OBJECTIVE: To investigate the influencing factors of blood pressure phenotypes and the distribution of FDH in FCHL families. METHODS: Forty-two FCHL families with 435 members, 147 consanguine members and 90 members without consanguinity from Beijing area were studied. Eleven of the 42 FCHL families (26.2%) were identified as families with FDH syndrome. Stepwise regression analysis was used to analyze the association between the target variables and blood pressure phenotypes, such as systolic blood pressure (SBP), diastolic blood pressure (DBP), mean arterial pressure (MAP), and pulse pressure (PP), of the 237 FCHL members aged 30 to 60 years. RESULTS: The prevalence of dyslipidemic hypertension in the FCHL relatives was significantly higher than that in the spouses (29.9% versus 8.9%, P < 0.01), with an odds ratio of 3.37 (95% CI 1.44 to 8.14). In the FCHL families body mass index (BMI), age and blood sugar were independent contributors to SBP, DBP, and MAP, respectively (all P < 0.05). Age and apolipoprotein B (apoB) were important contributors to pulse pressure (both P < 0.05). CONCLUSIONS: BMI and glucose are significant contributors to different phenotypes of blood pressure. Moreover, apoB is a significant contributor to pulse pressure in FCHL families.

Adult↗
PubMed1992

[An epidemiogenetic study of typical retinitis pigmentosa in Japan--a preliminary report of nationwide, multicenter study].

We performed a nationwide, multicenter study of typical retinitis pigmentosa with reference to the inheritance patterns of the disease. A total of 253 probands were registered during two months of 1989, and an analysis of the parental consanguinity of 182 probands with the method of inbreeding coefficient enabled us to estimate the relative prevalence of genetic types; autosomal recessive trait: 47.6%; autosomal dominant trait: 17.3%; sporadic cases: 34.6%. A comparison of the results with previous studies has indicated a decrease in the prevalence of the autosomal recessive trait and an increase in the sporadic cases, as would be expected from the decrease in consanguineous marriages and offsprings in the past few decades in Japan. X-linked retinitis pigmentosa was rarely identified, but precise evaluation of its frequency needs further investigation.

Adolescent↗
PubMed2004

Complex facio-audio-symphalangism syndrome. An autosomal recessive type?

Complex facio-audio-symphalangism syndrome. an autosomal recessive type?: This report describes a new case of facio-audio-symphalangism syndrome in a 32-year-old female patient from a consanguineous family. She had a severely mentally retarded and anophthalmic sister. These associations might be coincidental or demonstrate genetic heterogeneity in this syndrome We note the diagnostic features of the case, discuss the novel association with consanguinity and highlight the possible heterogeneity of the facio-audio-symphalangism syndrome.

Adult↗
PubMedDate not supplied

[Cumulative incidence and distribution of congenital heart diseases in newborns in Beirut and its southern suburb (1999-2002)].

OBJECTIVES: To analyze the incidence and distribution of congenital heart diseases (CHD) in Beirut and its southern suburb. MATERIALS AND METHODS: 27834 consecutive live births were examined (13894 boys and 13940 girls), between 1999 and 2002, in six hospital centers in Beirut and its southern suburb. CHD were analyzed according to age at diagnosis, sex and severity of malformation. The rate of consanguinity among the parents of the studied population was studied. RESULTS: 249 CHD were detected (cumulative incidence: 8.95 per thousand), of whom 81.5% while still in the neonatal/antenatal period. Ventricular septal defect was the commonest (38.2%), followed by pulmonary stenosis (9.6%) and atrial septal defect (7.6%); 23.3% of CHD were cyanotic. The frequency of double outlet right ventricle, pulmonary atresia with VSD, aortic stenosis, and atrio-ventricular canal were higher than reported in the international literature, but comparable to reports from the Arab Gulf countries (except aortic stenosis). In the affected children, the rate of consanguinity (1st degree) among their parents was 17.7%. CONCLUSION: The incidence and distribution of CHD in the studied area is similar to that reported in the literature, but differences were observed concerning some types of malformations. We believe that certain measures are needed to improve the detection of CHD that were not detected early in life. Such measures include: the administration of oxymetry tests before discharge from nursery, bringing the first neonatal examination post-discharge down to age 5 to 15 days of life, offering free diagnostic care for children of poor population, and the participation of the physicians in Lebanon to a national registry for cardiac diseases in children.

Consanguinity↗
PubMed2006

[An etiological study in a school for the deaf and radiological findings].

OBJECTIVES: The causes of sensorineural hearing loss were assessed in a population of students in a school for the deaf. PATIENTS AND METHODS: Ninety-one students (34 girls, 57 boys; mean age 10.6 years; range 7 to 20 years) from a school for the deaf were evaluated together with their family tree. Otolaryngologic, ophthalmologic, and systemic physical examinations and audiologic and radiologic investigations were performed. RESULTS: Sensorineural hearing loss was of genetic origin in 32.9% of the students. No etiologic factor could be determined in 31.9% of the cases. Infectious diseases (38.3%) and consanguinity (26.3%) were found as the most common etiologic factors in nongenetic and genetic sensorineural hearing losses, respectively. CONCLUSION: Sensorineural hearing losses due to infectious diseases and consanguineous marriages are preventable conditions. The incidence of sensorineural hearing loss will decline if these two conditions are controlled.

Adolescent↗
PubMed2006

Overview of genetic-epidemiological studies in ethnically and demographically diverse isolates of Dagestan, Northern Caucasus, Russia.

AIM: To assess genetic diversity and genetic distances among isolated populations from Dagestan. METHODS: A cross-population genetic epidemiology design was applied in ethnically and demographically diverse isolates from Dagestan, some with more than 200 and some with less than 100 generations of demographical history since their founding. RESULTS: The analysis of genetic diversity showed that Dagestan ethnic populations are clearly close to European ethnic populations. The genetic data support the view of them as ancient, highly isolated populations 85%-97% the rate of the endogamy and inbreeding coefficient F=0.010-0.015. Many Dagestan populations have very high prevalence of certain complex diseases such as cardiovascular illnesses, cancer, schizophrenia, mental retardation, and progressive muscular dystrophy. Lifetime morbid risk for schizophrenia in the isolates varied from 0 to 5%. Among the relatives, the number of men with chronic schizophrenia was at least twice as high as women. The average age of onset of schizophrenia was 21.2 years for offspring of consanguineous marriages and 17.4 years for offspring of non-consanguineous marriages (P=0.033). CONCLUSION: The results support the hypothesis that cross-population design provides unique opportunities for observing reliable ancestral haplotypes with disease predisposing loci, as well as population-specific linked loci.

Adolescent↗
PubMed2006

[Mal de Meleda. 16 cases].

Mal de Meleda is a recessive transgression palmoplantar keratoderma. We report the epidemiological, clinical and progressiveness aspects of the disease in 16 patients of a large consanguineous tunisian family. The age ranged from 3 to 90 years. Nine were male and 7 female patients. Onset in early infancy was characterized by erythema of the palms and soles, followed by a diffuse yellowish hyperkeratosis. Thickness of the dorsal aspect of the fingers started in childhood. Extension of hyperkeratosis to the dorsal of the hand were reported only in adults and usually precede the involvement of the feet Palmoplantar hyperhidrosis with fetid odor between the toes was frequently seen as well as conical distal phalanges. In some adults keratoderma gave contracture of the fingers leading to limitation of movements Mal de Meleda must be differentiated from other recessive palmoplantar keratoderma such as Papillon-Lefévre syndrome and Mal de Naxos. the remaining inherited palmoplantar keratoderma being autosomal dominant. Mal de Meleda is a rare disease but is still relatively frequent in some tunisian regions, due to the high rate of consanguinity Mal de Meleda remains an afflicting and disabling disease.

Adolescent↗
PubMed2006

Chromosomal rearrangements in children with idiopathic mental retardation using subtelomeric fluorescent in situ hybridization.

To screen a selected group of children with idiopathic mental retardation for subtelomeric abnormalities using the fluorescent in situ hybridization (FISH), which has been reported to be cost-effective in routine applications. We also aimed to assess the availability of the scoring system which is used for selection of those children for FISH analysis. A total of 30 children aged 3-16 years with idiopathic mental retardation (moderate to severe) and normal karyotypes were included in this study. The children whose parents had consanguineous marriages were excluded from the study. All cases were evaluated using the scoring system published by de Vries et al. (5) Forty-one subtelomeric regions for each case were analyzed by fluorescent in situ hybridization. One case with a score value 5 presented terminal deletion of chromosome 9p by FISH (3.3 %). Analyzing chromosomes of the same case with higher resolution G-banding showed the same abnormality. The frequency of subtelomeric abnormalities in our study group was much lower than the frequencies reported in other studies and the scoring criterions suggested by de Vries et al. have not effectively increased our subtelomeric deletion detection rates. Autosomal recessive disorders may be a more common reason compared to subtelomeric abnormalities in this group of patients in the countries where consanguinity rate is high. Laboratories may be encouraged to analyze high-resolution G-banded karyotypes in those cases. Moreover more effective selection criteria for FISH are suggested by establishing thorough genotype-phenotype correlations besides case reports with different subtelomeric abnormalities.

Adolescent↗
PubMed1996

Inheritance of non-syndromal genetic deafness.

This study was carried out on 35 patients with undifferentiated genetic hearing loss attending the Human Genetics Clinic, Medical Research Institute, Alexandria University. Their ages ranged from three months to 25.5 years. Females were commonly affected than males. The high parental consanguinity (75%) with high inbreeding coefficient (0.04) declared the role played by consanguinity, which is an important risk factor, in the occurrence of the abnormality. The type of hearing loss in all patients is sensorineural. The diagnosis of deaf patients was done by means of pedigree analysis and audiometric criteria. They were classified according to their diagnosis into four cases with dominant inheritance, 21 cases having congenital deafness showed recessive inheritance with a recurrence risk of 0.277+/-(1.96) (0.10), one case with childhood deafness also showed recessive inheritance and one case with X-linked inheritance. Six cases were isolated cases, their mode of inheritance was indefinite except one case which may have suggested dominant inheritance. Two cases of ototoxicity in childhood also suggesting genetic causes were included. Genetic counselling was offered to the deaf parents to help the family to accept and adjust to the birth of a deaf child. The nature of the condition, prognosis and recurrence risk were explained to the parents.

Adolescent↗
PubMed1991

Occurrence of systemic autoimmune disorders & autoantibodies in house-hold contacts of patients with systemic lupus erythematosus.

Household contacts of 22 randomly selected patients with systemic lupus erythematosus (SLE) were screened for autoimmune diseases and autoantibodies. Thirty nine consanguineous and 17 nonconsanguineous household contacts were studied. In the first group symptomatic SLE was seen in 5 per cent, rheumatoid arthritis in 2.5 per cent, antinuclear antibody (ANA) in 10 per cent and rheumatoid factor (RF) in 5 per cent while anti-dsDNA, anti-nRNP and anti-Sm antibodies were not detected in any individual. The second group showed total absence of any marker of autoimmunity. In normal controls only RF was detected in 3 per cent. The occurrence of markers of autoimmunity only in consanguineous household contacts of patients with SLE further confirms the recognised role of genetic factors in the etiology of SLE.

Aged↗