Accepted 20 March 1997 During a survey for diabetes mellitus in rural India, a 34-year-old man with polydactyly and partial blindness drew the attention of this author. He was born of a consanguineous marriage and had healthy siblings. His parents report that the milestones of developments were apparently normal up to the age of four years when they noticed his difficulty in identifying objects...

We aimed to describe the causes, characteristics, and rate of parental consanguineous marriage associated with patients with visual impairments in Turkey. This study involved 236 patients with visual impairments. The 10th revision of the International Classification of Diseases was used to categorize the causes of visual impairments (based on the main cause in both eyes). The mean age of the pa...

Inbreeding is usually defined as the mating between relatives and the progeny that result of a consanguineous mating between two related individuals is said to be inbred (CavalliSforza & Bodmer, 1971; Hedrick, 2005; Vogel & Motulsky, 1997). As a result of inheriting the same chromosomal segment through both parents, who inherited it from a common ancestor, the individuals born of consanguineous...

Porphyria refers to a rare group of genetically inherited or acquired disorders that arise due reduced metabolic activity any the enzymes in haem biosynthetic pathway. Defect enzyme causes presentation symptoms porphyria. The epidemiology Acute Intermittent (AIP) is complicated because its rarity and delay diagnosis. We present case seven-year-old girl who presented with multisystem involvement...

Children of consanguineous unions carry long runs homozygosity (ROH) in their genomes, due to parents' recent shared ancestry. This increases the burden recessive disease populations with high levels consanguinity and has been heavily studied some groups. However, there little investigation broader effect on patterns genetic variation a global scale. study, which collected published data inform...

Background Congenital hypothyroidism (CH) is one of the most common causes of mental disability, which can be prevented in the case of early diagnosis and treatment. We aimed to study the some relevant risk factors for CH in neonates born in Khorasan Razavi Province, Iran. Materials and Methods: This was a population-based case-control study conducted on 97,380 neonates.The study population c...

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Chronic granulomatous disease (CGD) is an extremely rare genetically heterogeneous disorder characterized by serious life-threatening infections. CGD caused a defect of the nicotinamide adenine dinucleotide phosphate (NADPH) oxidase system. The increased inflammation and granuloma formation secondary to recurrent typically involves lungs, liver, lymph nodes. Most patients with are diagnosed in ...

The reticular approach to kinship Douglas R. White and Michael Houseman For l’Homme, Special issue on kinship Regardless of how marriage is locally defined, most people in most places marry (and/or have children with) people who are neither too close (immediate family members) nor overly distant (total strangers). As a result, many members of a given community are linked to each other by multip...