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Journal article

Examination of the X chromosome by STS-PCR screening for the presence of submicroscopic deletions.

Abstract:

Cytogenetically undetectable deletions are suspected to be an important cause of mental retardation and developmental delay, as suggested by the observation that about 7% of children with undiagnosed mental retardation have rearrangements affecting the chromosome ends. Screening the whole genome for regions of aneuploidy smaller than 5 Mb is not feasible, but the availability of a high resolution map of the X chromosome means that it is possible to look for deletions in males by PCR. We have ...

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Publication status:
Published

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Publisher copy:
10.1007/s004390050855

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Institution:
University of Oxford
Department:
Oxford, MSD, Clinical Medicine, WTC Human Genetics
Role:
Author
Journal:
Human genetics
Volume:
103
Issue:
4
Pages:
488-492
Publication date:
1998-10-05
DOI:
EISSN:
1432-1203
ISSN:
0340-6717
URN:
uuid:8de49f4a-20cc-4d8b-9899-582add9501b2
Source identifiers:
36270
Local pid:
pubs:36270

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