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Molecular genetic study of the frequency of monosomy 22q11 in DiGeorge syndrome.

Abstract:

It is well established that DiGeorge syndrome (DGS) may be associated with monosomy of 22q11-pter. More recently, DNA probes have been used to detect hemizygosity for this region in patients with no visible karyotypic abnormality. However, DGS has also been described in cases where the cytogenetic abnormality does not involve 22q11; for instance, four cases of 10p- have been reported. In this study we have prospectively analyzed patients, by using DNA markers from 22q11, to assess the frequen...

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Publication status:
Published

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Institution:
University of Oxford
Department:
Oxford, MSD, Clinical Neuroscience
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Journal:
American journal of human genetics
Volume:
51
Issue:
5
Pages:
964-970
Publication date:
1992-11-05
EISSN:
1537-6605
ISSN:
0002-9297
URN:
uuid:0d38891e-888c-4dc1-9ab1-17c5ad1a7f32
Source identifiers:
251610
Local pid:
pubs:251610

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