We report a 20-year-old man with maternal uniparental disomy for chromosome 14 (UPD14) and maturity-onset diabetes mellitus (DM). He had pre- and postnatal growth retardation, developed DM at age 20 years without any autoimmune antibodies, and had a mosaic 45,XY,der(14;14)(q10;q10)[129]/46,XY,+14,der(14;14)(q10;q10)[1] karyotype. Allelotyping using microsatellite markers covering the entire 14q indicated segmental maternal isodisomy for 14q21-q24 and maternal heterodisomy of the remaining regions of the chromosome. It is thus tempting to speculate that the segmental isodisomy led to reduction to homozygosity for a mutant gene and thus caused his DM, although the possibility of coincidental occurrence of the two events cannot totally be ruled out. Fluorescence in situ hybridization (FISH) analysis using BAC clone probes revealed that the isodisomic segment did not overlap any known IDDM or NIDDM susceptibility loci on chromosome 14, suggesting a novel locus for a subset of DM at the isodisomic segment.
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Article Synopsis
- Maternal uniparental disomy for chromosome 6 (upd) is linked to intrauterine growth restriction (IUGR), but the exact clinical details are not well defined.
- Two new cases were analyzed, one showing mixed isodisomy and heterodisomy patterns, and the other having a homozygous mutation in SCUBE3 along with maternal upd.
- Of the 21 documented cases of maternal upd, 85.7% experienced IUGR, highlighting a significant correlation between this genetic condition and growth issues in utero.
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