Abstract:
:The molecular characterization of two patients with features of Beckwith-Wiedemann syndrome (BWS) and chromosome abnormalities is consistent with the association of this phenotype with a duplication of a portion of chromosome 11. Quantitative Southern blot analysis of DNA from patient A defines a large inherited duplicated segment of chromosome 11. For patient B, a de novo duplication of unknown origin has been shown to contain a segment of 11p15. This chromosome segment includes the genes for insulin-like growth factor 2, beta-hemoglobin, calcitonin A (CALCA), and parathyroid hormone (PTH). However, the myogenic differentiation factor, MYOD1, is not included in the duplicated segment. This demonstrates that MYOD1 is proximal to CALCA and PTH and excludes MYOD1 as the BWS gene. These data place the BWS gene distal to MYOD1 on 11p15.
journal_name
Genomicsjournal_title
Genomicsauthors
Weksberg R,Glaves M,Teshima I,Waziri M,Patil S,Williams BRdoi
10.1016/0888-7543(90)90256-tsubject
Has Abstractpub_date
1990-12-01 00:00:00pages
693-8issue
4eissn
0888-7543issn
1089-8646journal_volume
8pub_type
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