Inherited point mutations in collagen II in humans affecting mainly cartilage are broadly classified as chondrodysplasias. Most mutations occur in the glycine (Gly) of the Gly-X-Y repeats leading to destabilization of the triple helix. Arginine to cysteine substitutions that occur at either the X or Y position within the Gly-X-Y cause different phenotypes like Stickler syndrome and congenital s...

primary immunodeficiencies (pid) are a group of disorders, characterized by an unusual susceptibility to infections. delay in diagnosis results in increased morbidity and mortality in affected patients. the purpose of this study was to determine the mortality rate of iranian immunodeficient patients referred to children medical center hospital affiliated to tehran university of medical sciences...

Down's syndrome in association with various other chromosomal disorders such as Klinefelter's, Turner's, trisomy 15, and triple X (Penrose and Smith, 1966), are well known. Other combinations of Down's syndrome with various metabolic disorders (e.g. hypothyroidism and diabetes mellitus (Daniels and Simon, 1968)) have also been reported. An unusual patient was recently seen at Columbus Children'...

It is well-known that, given a Steiner triple system, a quasigroup can be formed by defining an operation · by the identities x · x = x and x ·y = z where z is the third point in the block containing the pair {x, y}. The same is true for a Mendelsohn triple system where the pair (x, y) is considered to be ordered. But it is not true in general for directed triple systems. However directed tripl...

AIM To determine the value of short-tandem repeat markers on the chromosome X (X-STR) for prenatal diagnostics of the chromosome X numerical disorders. METHODS We investigated the genetic variability of 5 X-markers (DXS9895, DXS6810, DXS6803, GATA172D05, and HPRTB) in 183 healthy Croatian individuals (90 men and 93 women). We also tested 13 patients with X chromosome disorders (Turner syndrom...