منابع مشابه
Goldenhar Syndrome and Pericentric Inversion of Chromosome 9
Oculo-auriculovertebral dysplasia (Goldenhar) is a congenital syndrome. Its phenotype differs from craniofacial anomalies to cardiac, vertebral or central nervous system defects. This syndrome is rare and its etiology is not apparent yet. Pericentric inversion of chromosome 9 is one of the most common structural balanced chromosomal aberrations with its incidences 15% to 25%. Herein we present ...
متن کاملgoldenhar syndrome and pericentric inversion of chromosome 9
oculo-auriculovertebral dysplasia (goldenhar) is a congenital syndrome. its phenotype differs from craniofacial anomalies to cardiac, vertebral or central nervous system defects. this syndrome is rare and its etiology is not apparent yet. pericentric inversion of chromosome 9 is one of the most common structural balanced chromosomal aberrations with its incidences 15% to 25%. herein we present ...
متن کاملUnderstanding genome structural variations
Genome structural variations (SVs) in the human genome are defined as DNA sequence polymorphisms of at least a few dozen or few hundred bases in length and include deletions, duplications, inversions, translocation, retroelement insertions, and more complex rearrangements that could be thought of as consisting of multiple fragments from the just listed categories. More bases in a personal genom...
متن کاملStructural Chromosome Aberrations
Structural chromosome aberrations or chromosome mutations represent apart from aneuploidies the most frequent pathologic findings in applied chromosome diagnostics. But they also occur as combinations of both types as in unstable rearrangements or in chaotic karyotypes of early stages of embryonic development. Depending on the indication for chromosome analysis—child with developmental retardat...
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ژورنال
عنوان ژورنال: Gulustan-Black Sea Scientific Journal of Academic Research
سال: 2019
ISSN: 2346-7541,1987-6521
DOI: 10.36962/gbssjar5007201947