Research from the 1930s to the 1950s established that a deficit of n-6 essential fatty acids (EFAs) leads to an inflammatory skin condition in both animals and humans. In a common inherited skin condition, atopic dermatitis (eczema), there was evidence of low blood EFA concentrations and of a therapeutic response to exceptionally high doses of linoleic acid. More recently, it has been establish...

BACKGROUND: Consanguinity is defined as the marriage between close relatives. The deleterious effects associated with consanguinity may be caused by the expression of rare recessive genes inherited from common ancestors. AIMS AND OBJECTIVES: The present study was undertaken to analyze the effect of consanguinity on chromosomal abnormality (CA). METHODS AND MATERIALS: During last 6 years period,...

Aneuploidy, the most common chromosomal abnormality at birth and the main ascertained cause of pregnancy loss in humans, originates primarily from chromosome segregation errors during oogenesis. Here, we report that heterozygosity for a mutation in the mitotic checkpoint kinase gene, Bub1, induces aneuploidy in female germ cells of mice and that the effect increases with advancing maternal age....

SUMMARY We present a family showing apparently autosomal dominant transmission of Sprengel's shoulder with cleft palate. Some, but not all, of the kindred showed features of the Klippel-Feil syndrome. The association between these abnormalities is discussed. The isolated abnormality of cleft palate is considered to be inherited in a multifactorial manner, although when associated with lip pits,...

Methemoglobin is a type of hemoglobin in which the ferrous ion has been oxidized to the ferric state. It is therefore incapable of combining with or transporting the oxygen molecule, which is replaced by a hydroxyl radical. Methemoglobinemia can be acquired or inherited. Most cases are acquired and are primarily due to exposure to certain drugs and chemicals, such as nitrates, nitrites, quinone...

BACKGROUND AND PURPOSE Inherited protein S deficiency has been associated with an increased risk of thromboembolic disease. It is possible that such a coagulopathy could predispose children to the development of strokes by permitting clot formation in response to stimuli that ordinarily would be insufficient to cause thrombus formation. CASE DESCRIPTION We evaluated a previously well 4-year-o...

Bruising and bleeding are commonly seen in children and are usually associated with minor injury and trauma. However, in two groups of children the bruising may be more significant than expected: those with an underlying haemostatic abnormality, such as an inherited bleeding disorder, or those who have been subjected to non-accidental injury (NAI). Diagnosing inherited bleeding disorders in chi...

We present here a 16-year-old Turner syndrome patient with a complex karyotype that includes a maternally-inherited balanced translocation between chromosomes 4 and 16 and mosaicism of the isochromosome Xq10. Her karyotype was 45,X,t(4;16) (p15.2;p13.1)[9]/46,X,i(X) (q10),t(4;16)(p15.2;p13.1) [91]. The karyotype of her father was normal, whereas that of her mother had the same balanced transloc...