We present a child with severe mental retardation, a central nervous system malformation, signs of ectodermal dysplasia, and a distinct craniofacial dysmorphism. Similar but less pronounced craniofacial features were present in the mildly mentally retarded mother. This observation confirms a previous report of a boy with the same MCA-MR syndrome and suggests X linked or autosomal dominant inher...

We have used a cDNA probe for human complement component 9 (C9), which detects three DNA polymorphisms, to analyse the inheritance of C9 in families informative for C6 protein variants. We found that these genes are closely linked with a lod score of 9.28 at recombination fraction 0.00. There is not indication of allelic association.

BACKGROUND: Proper management of patients with Kallmann syndrome (KS) allows them to attain a normal reproductive health. The purpose of this study is to demonstrate the presentation modalities, phenotypes and the modes of inheritance among 32 patients with Kallmann syndrome in Jordan. Recognition of the syndrome allows for prompt proper management and provision of genetic counselling. SUBJECTS...

Source/Description: cpX12 is a 1.1 kb EcoRI single-copy genomic fragment cloned into pAT153 from a pool of 100 cosmids isolated from a human/hamster somatic cell hybrid containing only the human X chromosome (1). Polymorphism: cpX12 reveals a two-allele restriction fragment length polymorphism with bands at 0.7 kb and 1.9 kb (Al) or 2.6 kb (A2) after Southern blot analysis of human genomic DNA ...

The majority of angiosperms display maternal plastid inheritance. The cytological mechanisms of this mode of inheritance have been well studied, but little is known about its genetic relationship to biparental inheritance. The angiosperm Chlorophytum comosum is unusual in that different pollen grains show traits of different modes of plastid inheritance. About 50% of these pollen grains exhibit...

Causal heterogeneity of anencephaly and spina bifida has been demonstrated; in rare families the neural tube defect may be caused by a single gene. We report a family in which four cases of anencephaly or spina bifida may represent X-linked inheritance.

Congenital cataract is a common cause of blindness in children; however, its pathogenesis remains unclear. Genetic factors have been shown to play an important role in the pathogenesis of congenital cataract. The current genetic models of congenital cataract include autosomal dominant, autosomal recessive, and sex-linked inheritance. Sex-linked congenital cataract could be inherited through the...

The major interest in vertebral artery (VA) hypoplasia comes from its possible connection to migraines with aura as well as from the fact that it is one of the risk factors for a stroke. Therefore, the aim of this preliminary study was to investigate the mode of inheritance of VA hypoplasia. Initially, color Doppler of VA was performed in 64 first- and second-degree relatives of 33 probands, an...

Obstructive sleep apnea (OSA) is a common disorder characterized by recurrent episodes of nocturnal upper airway obstruction during sleep, which can seriously affect quality and cause sleepiness the daytime. Known risk factors for OSA are numerous, including obesity, age, gender, craniofacial anatomy, smoking, alcohol consumption, genetic inheritance. Recently, air pollution was linked to an in...

We study how attitudes to inheritance taxation are influenced by information about the role of inherited wealth in society. Using a randomized experiment register-linked Swedish survey, we find that informing individuals large aggregate importance and its link inequality opportunity significantly increases support for taxation. Changes perceived economic altered views on whether luck matters mo...