An alternative to FISH: detecting deletion and duplication carriers within 24 hours
نویسندگان
چکیده
منابع مشابه
An alternative to FISH: detecting deletion and duplication carriers within 24 hours.
A range of genetic disorders has been revealed to be caused by deletions and duplications within the genome. In addition, computational analysis of the recently completed human genome sequence suggests that many more rearrangements might exist. Such rearrangements are either directly involved in genetic disease or may play an important, but yet to be determined, role in human variation and mult...
متن کاملELECTRONIC LETTER An alternative to FISH: detecting deletion and duplication carriers within 24 hours
A range of genetic disorders has been revealed to be caused by deletions and duplications within the genome. In addition, computational analysis of the recently completed human genome sequence suggests that many more rearrangements might exist. Such rearrangements are either directly involved in genetic disease or may play an important, but yet to be determined, role in human variation and mult...
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Deletions and duplications of the recurrent ~600 kb chromosomal BP4-BP5 region of 16p11.2 are associated with a broad variety of neurodevelopmental outcomes including autism spectrum disorder. A clue to the pathogenesis of the copy number variant (CNV)'s effect on the brain is that the deletion is associated with a head size increase, whereas the duplication is associated with a decrease. Here ...
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ژورنال
عنوان ژورنال: Journal of Medical Genetics
سال: 2003
ISSN: 1468-6244
DOI: 10.1136/jmg.40.10.e113