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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Authors
Bibliographic Details
- Journal:
- Human genetics
- Volume:
- 103
- Issue:
- 4
- Pages:
- 488-492
- Publication date:
- 1998-10-01
- DOI:
- EISSN:
-
1432-1203
- ISSN:
-
0340-6717
- Source identifiers:
-
36270
Item Description
- Language:
- English
- Keywords:
- Pubs id:
-
pubs:36270
- UUID:
-
uuid:8de49f4a-20cc-4d8b-9899-582add9501b2
- Local pid:
- pubs:36270
- Deposit date:
- 2012-12-19
Terms of use
- Copyright date:
- 1998
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