منابع مشابه
A family with D-D translocation.
Balanced D/D translocation carriers appear to be normal in most instances (Court-Brown et al., 1966; Giannelli and Howlett, 1966). In some cases, however, a variety ofcongenital malformations has been reported, such as Klinefelter's syndrome (Lejeune, Turpin, and Decourt, 1960), little secondary sex development (Walker and Harris, 1962), malformation of the spine (de Grouchy et al., 1963), arre...
متن کاملTranslocation and trisomic Down's syndrome in a family with a familial D-G translocation.
The reports on familial Down's syndrome (mongolism) date in the medical literature from the 20th years of this century. Familial Down's syndrome is now well-described event but relatively rare. Penrose states that pairs of affected sibs appear about once for every 100 single cases of mongolism collected at random (quoted by Soltan et al. 1964). About two-thirds of the mongoloids are close relat...
متن کاملKlinefelter's syndrome associated with a D/D translocation.
A case of Klinefelter's syndrome and a simultaneous familial D/D translocation is described. The clinical, endocrine, and psychiatric features were typical of those found in Klinefelter's syndrome. Other family members showed no obvious abnormality despite presence of the D/D translocation.
متن کاملA family with complement factor D deficiency
The complement system consists of more than 20 plasma proteins and plays an important role in the defense against microorganisms (1). Activation of the classical or the alternative pathway results in the cleavage of C3, the central component of the system. In the alternative pathway, the spontaneous hydrolysis product iC3 (i.e., C3 with intact peptide chains but with a hydrolyzed thioester) com...
متن کاملDown's syndrome with a familial D/D reciprocal translocation and a G/G chromosome.
The presence of a translocation between two chromosomes in the I3-I5 (D) group does not usually give rise to any phenotypical abnormality and may be relatively common in the population (Hamerton, Giannelli, and Carter, I963). Such translocations have, however, been reported in a patient with XXY Klinefelter's syndrome (Lejeune, Turpin, and DeCourt, i960), and Hamerton et al. (I963) describe a f...
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ژورنال
عنوان ژورنال: Journal of Medical Genetics
سال: 1968
ISSN: 1468-6244
DOI: 10.1136/jmg.5.3.205