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In a study of 86 histologically defined glomerulonephritis patients, a striking association between the BfF allele and glomerulonephritis has been found. There is also an enhanced genetic predisposition to glomerulonephritis in individuals with rare Bf alleles. The role of the chromosome 6 loci...
Aneuploidy and structural chromosome rearrangements comprise a significant group of abnormalities in the general population. The true incidence of such abnormalities can be obtained by large research studies of consecutive newborns. In practice, the observed incidence of such chromosome...
Haemophilia A. Thirty-one pregnant women, obligate or probable carriers of haemophilia A, requested prenatal diagnosis if sex determination showed the foetus to be a male. In 11 of the 31 cases the foetuses were females; in two, the genetic variant of the disease rendered prenatal diagnosis...
We report a Cambodian girl with digital clubbing, profuse hyperhidrosis, and joint and leg pain and swelling. She also had extensive acro-osteolysis of distal phalanges as well as generalized osteoporosis. There was no other affected person in the family, but her parents were first cousins....
The present report describes a 46,XX,inv(3)(p13p25) karyotype in a 4.5year-old girl with growth retardation and in her phenotypically normal mother.
The carrier status for glucose-6-phosphate dehydrogenase deficiency can still be detected with the use of hair follicles after a period up to 10–14 days after plucking, even under conditions of temperature and humidity that are encountered in tropical countries, where the disease is most...
Three fertile, non-mosaic patients with partial monosomy of an X-chromosome (two with Xp deletion with breakpoints at Xpl 106 and Xp2101, respectively, and one with a del(Xq25)) were found among 12 females with Xp deletion and three with Xq deletion investigated in this laboratory after the...
An 8-year-old child with a ring chromosome 7 is presented, the first female and the fourth such individual to be described. The associated anomalies were rather benign: she presented with short stature, minor skeletal alterations, and normal intelligence. The only truly striking feature was the...
Disease-specific growth curves for Turner's syndrome were calculated by means of 2nd order homogeneous differential equations with constant coefficients, taking different cytogenetical subtypes into account. Comparison of these growth curves between X-monosomic (n=64) and 46,XX/45,X-mixoploid (n...
A single case of Lenz microphthalmia is presented in order to add to the sparse literature on the dysmorphic features of this X-linked condition.
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