Consanguinity and its relevance to clinical genetics

Shawky, Rabah M.; Elsayed, Solaf M.; Zaki, Moushira Erfan; El-Din, Sahar M. Nour; Kamal, Ferihan M.

doi:10.1016/j.ejmhg.2013.01.002

Cited by 97 publications

(85 citation statements)

References 36 publications

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“…As a clinical genetic term, "a consanguineous marriage" is a union between couples who are related as second cousins or closer [55][56][57]. The terms of inbreeding and consanguinity are used to deine relations between couples who have at least one common ancestor [58,59]. It is estimated that more than one billion of the global population who live in diferent communities and countries prefer consanguineous marriage [56,60].…”

Section: Consanguineous Marriagesmentioning

confidence: 99%

Oral and Periodontal Diseases in Consanguineous Marriages

Çalışır¹

2017

Insights Into Various Aspects of Oral Health

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Periodontitis is deined as an inlammatory disease of supporting tissues of teeth characterized by progressive destruction of the periodontal ligament and alveolar bone. Periodontal manifestations of these genetic disorders or syndromes, such as familial and cyclic neutropenias, granulomatous disease, agranulocytosis, Langerhans' cell disease, glycogen storage disease, hypophosphatasia, leucocyte adhesion deiciency, and Papillon-Lefèvre, Chédiak-Higashi, Cohen, Ehlers-Danlos, Marfan, Down, Haim-Munk, and Kindlers syndromes, imitate some types of periodontal diseases. Most of these syndromes have autosomal-recessive characterization and can be seen commonly in consanguineous marriages. Therefore, consanguineous marriages have generally been accepted as having important detrimental efects on ofspring. There is a lot of genetic research about consanguineous marriage and its detrimental efects on ofspring. Although consanguineous marriages are common in the world, the relationship with oral and periodontal diseases has not been thoroughly investigated. We do not have enough of an understanding of the efects of consanguineous marriage on oral and periodontal diseases. In this chapter, previous studies in the literature related to this subject will be investigated and evaluated, and then this research will be related to oral and periodontal diseases. Therefore, this chapter will guide further research. The aim of this chapter is to show the relation between consanguineous marriages and oral-periodontal diseases.

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Section: Consanguineous Marriagesmentioning

confidence: 99%

Oral and Periodontal Diseases in Consanguineous Marriages

Çalışır¹

2017

Insights Into Various Aspects of Oral Health

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“…At present, about 20% of world populations live in communities with a preference for consanguineous marriage and 8.5% of all children have CON parents. [5].…”

Section: Infertilitymentioning

confidence: 99%

“…Among CON marriage families, the blood relationship of uncle niece is 22.5% seems to have the highest risk of affecting offspring [3]. CON parents supporting one genetically abnormal child are almost 13 times more likely to give birth to another affected child as compared to non-CON parents [1,5]. Of 550 cases evaluated, chromosomal abnormalities both numerical and structural abnormalities were detected in 54 cases (9.81%).…”

Section: Infertilitymentioning

confidence: 99%

Consanguinity and Chromosomal Abnormalities

R¹,

Anupama²,

Kadandale³

et al. 2017

IJAR

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Back ground: Consanguinity (CON) is defined as marriage between the close relatives and strongly favoured among the Populations of South India and plays an important role in the high incidence of congenital malformations in children, due to Expression of rare recessive genes inherited from a a common ancestor. Aims:The present study is undertaken to analyze the effects of CON on congenital malformation and associated chromosomal abnormalities Methods and Material: A total of 550 cases with suspected genetic etiology were referred to Division of Cytogenetics, Department of Anatomy SSMC, Tumakuru, Karnataka since 2 years. Karyotyping was done from peripheral blood lymphocyte culture and G-T-G Banding using trypsin and Giemsa. Karyotype descriptions were reported and findings were statistically analyzed and those patients with chromosomal abnormalities received post Cytogenetic Genetic counselling in our Department.Results: CON marriages were represented in 36% of cases. Stillbirths, recurrent abortion, and congenital anomalies were significantly increased. Chromosomal anomalies were grouped as structural and numerical anomalies and highest frequency of abnormal karyotype was found among cases of Down's syndrome and repeated abortion. Conclusions:The present study is undertaken to analyze the effects of CON on Genetic disorders and associated chromosomal abnormalities which demonstrate the importance of cytogenetic evaluation, public health education, and genetic counseling.

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“…However, some risk factors have been linked to some CCHD. Examples are chemical exposure (6,7), genetic, consanguinity and chromosomal syndromes such as Down syndrome, Turners syndrome and Noonan syndrome, (8,9), infections such as rubella in pregnancy and drug abuse in pregnancy (10)(11)(12).…”

Section: Introductionmentioning

confidence: 99%

Cyanotic congenital heart diseases among Nigerian children

Animasahun

Madise-Wobo

Kusimo

2017

Cardiovasc. Diagn. Ther.

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Background: There are only few reports on cyanotic congenital heart diseases (CCHD) among Nigerian and African Children. The current report aim to provide the most recent hospital based data on the distribution of CCHD in children less than 14 years of age, the demographic characteristics and risk factors Results: There were 352 subjects with CCHD with a male to female ratio of 1.34:1. The children were age 2 days to 14 years with a mean ± SD of 38.62±44.74 months and median of 21 months. The most common type of CCHD (both isolated and multiple CCHD) was tetralogy of Fallot (TOF) followed double outlet right ventricle (DORV) and transposition of the great arteries (TGA). The most common mode of presentation was cyanosis.Conclusions: TOF was found in almost half of the subjects. Cases of DORV which have been rarely reported were more than those with TGA. Most were diagnosed late. Cyanosis was the most common mode of presentation. Clinical features are protean; thus a high index of suspicion is required to make an early diagnosis.

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Consanguinity and its relevance to clinical genetics

Cited by 97 publications

References 36 publications

Oral and Periodontal Diseases in Consanguineous Marriages

Oral and Periodontal Diseases in Consanguineous Marriages

Consanguinity and Chromosomal Abnormalities

Cyanotic congenital heart diseases among Nigerian children

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