An 18q- syndrome breakpoint resides between the duplicated serpins SCCA1 and SCCA2 and arises via a cryptic rearrangement with satellite III DNA
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چکیده
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Identification of cryptic rearrangements in patients with 18q- deletion syndrome.
The majority of patients with 18q- syndrome appear cytogenetically to have a terminal deletion of the long arm of chromosome 18. These 18q- patients are diagnosed by use of standard cytogenetic banding techniques, which have resolution insufficient for precise genotyping. In our effort to obtain a thorough genotype, we have analyzed the DNA from 35 patients who originally were diagnosed as havi...
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ژورنال
عنوان ژورنال: Human Molecular Genetics
سال: 1999
ISSN: 1460-2083
DOI: 10.1093/hmg/8.1.87