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Paternal uniparental disomy of chromosome 6 and transient neonatal diabetes mellitus

✍ Scribed by RJ Gardner; DO Robinson; L. Lamont; JPH Shield; IK Temple


Book ID
110887850
Publisher
John Wiley and Sons
Year
2008
Tongue
English
Weight
681 KB
Volume
54
Category
Article
ISSN
0009-9163

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First confirmed case with paternal unipa
✍ Kohlhase, JοΏ½rgen; Janssen, Bart; Weidenauer, Karin; Harms, Karsten; Bartels, Iri πŸ“‚ Article πŸ“… 2000 πŸ› John Wiley and Sons 🌐 English βš– 12 KB πŸ‘ 2 views

The existence of paternal uniparental disomy of chromosome 16 [upd( 16)pat] has previously been suspected but has not been proven. We report prenatal detection and follow-up of isodisomic upd(16)pat in a child with minimal defects but otherwise normal development. Our results indicate that isodisomi