Morphology and pathogenesis of 47, XYY/47, XY, +mar identified in patients with super male syndrome / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To explore the source and morphology of supernumerary markers from patients with 47,XYY/47,XY, +mar and supermale syndrome.</p><p><b>METHODS</b>Conventional GTG banded karyotyping and dual-color fluorescence in situ hybridization (FISH) were performed on 21 such patients.</p><p><b>RESULTS</b>Among these cases, 18 had their small supernumerary marker derived from the Y chromosome. Three were derived from autosomal chromosomes. Those derived from Y chromosome were small fragments with centromeres, while those derived from autosomes were in the ring form.</p><p><b>CONCLUSION</b>In children with supermale syndrome and 47,XYY/47,XY,+ mar, the supernumerary marker chromosomes primarily derive from sex chromosomes. These small chromosomes mainly have the forms of small segments with centromeres or rings. For such children, molecular cytogenetic analysis can facilitate genetic counseling and prenatal diagnosis.</p>

Identification of a novel splicing mutation in COL1A1 gene in a Chinese family affected with typeⅠosteogenesis imperfecta / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To investigate the genetic cause for a large family affected with typeⅠosteogenesis imperfecta.</p><p><b>METHODS</b>Genomic DNA was extracted from peripheral venous blood samples. The entire coding region and intron-exon boundaries of the COL1A1 gene were subjected to PCR amplification and direct sequencing. Total RNA was also extracted from immortalized B cell lines from the patients, with the first strand of cDNA synthesized with an oligo(dT)18 primer. The PCR products were directly sequenced using the TA cloned plasmid.</p><p><b>RESULTS</b>A c.3208G>A mutation has been identified in the COL1A1 gene, which can alter the splicing pattern of mRNA.</p><p><b>CONCLUSION</b>A novel splicing mutation c.3208G>A of the COL1A1 gene probably underlies the disease.</p>