Clinical and molecular delineation of Tetrasomy 9p syndrome: Report of 12 new cases and literature review
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15 صفحه اولTetrasomy 18p: case report and review of literature
Tetrasomy 18p syndrome (Online Mendelian Inheritance in Man 614290) is a very rare chromosomal disorder that is caused by the presence of isochromosome 18p, which is a supernumerary marker composed of two copies of the p arm of chromosome 18. Most tetrasomy 18p cases are de novo cases; however, familial cases have also been reported. It is characterized mainly by developmental delays, cognitive...
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ژورنال
عنوان ژورنال: American Journal of Medical Genetics Part A
سال: 2015
ISSN: 1552-4825
DOI: 10.1002/ajmg.a.36932