A case of paternal uniparental disomy for chromosome 11.
We report a case of paternal uniparental disomy for chromosome 11 that presented as severe intrauterine growth retardation. Autopsy following intrauterine death also revealed aberrant intestinal rotation and hypospadias. Chromosome analysis of direct preparations from placental biopsy showed an abnormal 47,XY,+11 karyotype. Analysis of long-term cultures from the placenta revealed 46,XY/47,XY,+11 mosaicism. Fluorescence in situ hybridization (FISH) studies on interphase nuclei confirmed trisomy 11 in multiple placental sites but detected only disomic cells in fetal skin. Investigation using microsatellite polymorphisms demonstrated paternal isodisomy at loci D11S909, D11S956, and D11S488, and paternal heterodisomy at locus D11S928.
D000328:Adult; D002869:Chromosome Aberrations; D002880:Chromosomes, Human, Pair 11; D004247:DNA / Q000032:analysis; D005260:Female; D005317:Fetal Growth Retardation / Q000235:genetics; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D008297:Male; D009030:Mosaicism; D011247:Pregnancy; D011296:Prenatal Diagnosis; D014314:Trisomy
D004247:DNA