Case Reports
doi: 10.1007/BF00286910.
Direct duplication 2p14 to 2p23
- PMID: 457145
- DOI: 10.1007/BF00286910
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Case Reports
Direct duplication 2p14 to 2p23
Hum Genet.
.
Abstract
A malformed male newborn was first diagnosed as having Smith-Lemli-Opitz syndrome. Extensive cytogenetic studies, including Q, G, C, R and T banding and BudR treatment, were applied, finally leading the authors to conclude that the patient had a partial 2p trisomy caused by direct duplication 2p14 to 2p23. This was a de novo chromosome abnormality, as both parents had normal karyotypes.
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