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Opitz G/BBB syndrome, a defect of midline development, is due to mutations in a new RING finger gene on Xp22
A new gene on Xp22f MIDI (Midline 1), which is disrupted in an OS patient carrying an X-chromosome inversion and is also mutated in several OS families, suggests an important role for this gene in midline development.
Direct diagnosis by DNA analysis of the fragile X syndrome of mental retardation.
This work has devised a method of identifying carriers of these mutations by direct DNA analysis and distinguished clearly in a single test between the normal genotype, the premutation, and the full mutation.
The same molecular mechanism at the maternal meiosis I produces mono- and dicentric 8p duplications.
It is demonstrated that these 8p rearrangements can be either dicentric with the second centromere at the tip of the short arm or monocentric, and the analysis of DNA polymorphisms indicates that the rearrangement is consistently of maternal origin.
Cloning and characterization of the human choroideremia gene.
The complete open reading frame of the CHM gene is isolated and characterized and its exon-intron structure is determined, enabling us to localize the X-chromosomal breakpoint in a CHM female with an X;7 translocation between exons 3 and 4.
Chromosome aberrations in peripheral blood lymphocytes of welders and characterization of their exposure by biological samples analysis.
The present data indicate that certain welding processes may generate fumes that seem to have a clastogenic activity.
Monosomy 21q: two cases of del(21q) and review of the literature
In situ hybridization and/or molecular studies appear to be necessary tools to study imbalance in such a small chromosome and to perform further genotype‐phenotype correlations.
Hypomagensemia with secondary hypocalcemia in a female with balanced X;9 translocation: mapping of the Xp22 chromosome breakpoint
In an attempt to define more precisely the position of the X breakpoint, a hybrid cell line is constructed retaining the der(X)(Xqter-Xp22.2::9q12-9qter) in the absence of the Der(9) and the normal X chromosome.
Mosaic tetrasomy 12p
The first case to be diagnosed prenatally and confirmed by enzyme assays is reported, and the clinical and biological characteristics of all the cases reported so far under various names are summarized.
Myotubular myopathy in a girl with a deletion at Xq27-q28 and unbalanced X inactivation assigns the MTM1 gene to a 600-kb region.
Comparison of this deletion with that carried by a male patient with a severe Hunter syndrome phenotype but no myotubular myopathy led to a considerable refinement of the position of the MTM1 locus, to a region of approximately 600 kb, between DXS304 and DXS497.