Segmental maternal heterodisomy of the proximal part of chromosome 15 in an infant with Prader-Willi syndrome.
Uniparental disomy (UPD) 15, detected in patients with Prader-Willi (PWS) and Angelman syndromes, has to date always involved the entire chromosome 15. We report the first case of segmental maternal uniparental heterodisomy confined to a proximal part of chromosome 15 in a child with clinical features of PWS. This unusual finding can be explained by the rare combination of three consecutive events: a trisomy 15 zygote caused by a maternal meiosis I error, early postzygotic mitotic recombination between maternal and paternal chromatids, and, finally, trisomy rescue by the loss of the rearranged chromosome 15 containing the paternal 15q11-q13 segment.
Nazarenko
Sergey
S
Institute of Medical Genetics, Russian Academy of Medical Sciences, Tomsk, Russia.
Sazhenova
Elena
E
Baumer
Alessandra
A
Schinzel
Albert
A
D000328:Adult; D001324:Autoantigens; D002675:Child, Preschool; D002874:Chromosome Mapping; D002884:Chromosomes, Human, Pair 15 / Q000235:genetics*; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D008297:Male; D018895:Microsatellite Repeats; D009363:Neoplasm Proteins / Q000235:genetics; D009687:Nuclear Proteins / Q000235:genetics; D011218:Prader-Willi Syndrome / Q000235:genetics* / Q000473:pathology; D000071156:Promyelocytic Leukemia Protein; D017411:Ribonucleoproteins, Small Nuclear / Q000235:genetics; D014157:Transcription Factors / Q000235:genetics; D025521:Tumor Suppressor Proteins; D024182:Uniparental Disomy; D055517:snRNP Core Proteins
D001324:Autoantigens; D009363:Neoplasm Proteins; D009687:Nuclear Proteins; D000071156:Promyelocytic Leukemia Protein; D017411:Ribonucleoproteins, Small Nuclear; D014157:Transcription Factors; D025521:Tumor Suppressor Proteins; D055517:snRNP Core Proteins; C070576:PML protein, human