Abstract | BACKGROUND: OBJECTIVE: METHODS: RESULTS: Histological findings diverged from those described in focal congenital hyperinsulinism or Beckwith-Wiedemann syndrome. No potassium channel dysfunction and no mutation of its encoding genes (SUR1, KIR6.2) were detected. In patient 1 with congenital hyperinsulinism and Beckwith-Wiedemann syndrome, paternal isodisomy for the whole haploid set was homogeneous in the pancreatic lesion, and mosaic in the leucocytes and skin fibroblasts (hemihypertrophic segment). Blood group typing confirmed the presence of two erythroid populations (bi-parental v paternal only contribution). Patient 2 had two pancreatic lesions, both revealing triploidy with paternal heterodisomy. Karyotype and FISH analyses done on the fibroblasts and leucocytes of both patients were unremarkable (diploidy). CONCLUSIONS:
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Authors | I Giurgea, D Sanlaville, J-C Fournet, C Sempoux, C Bellanné-Chantelot, G Touati, L Hubert, M-S Groos, F Brunelle, J Rahier, J-C Henquin, M J Dunne, F Jaubert, J-J Robert, C Nihoul-Fékété, M Vekemans, C Junien, P de Lonlay |
Journal | Journal of medical genetics
(J Med Genet)
Vol. 43
Issue 3
Pg. 248-54
(Mar 2006)
ISSN: 1468-6244 [Electronic] England |
PMID | 16033916
(Publication Type: Case Reports, Letter, Research Support, Non-U.S. Gov't)
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Topics |
- Chromosome Aberrations
- Congenital Abnormalities
(genetics)
- Female
- Humans
- Hyperinsulinism
(congenital, genetics)
- Infant, Newborn
- Male
- Mosaicism
- Ploidies
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