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Maternal uniparental disomy 12 in a healthy girl with a 47,XX,+der(12)(:p11→q11:)/46,XX karyotype
  1. F von Eggeling1,
  2. C Hoppe1,
  3. U Bartz2,
  4. H Starke1,
  5. G Houge3,
  6. U Claussen1,
  7. G Ernst1,
  8. D Kotzot4,
  9. T Liehr1
  1. 1Institute of Human Genetics and Anthropology, University of Jena, Jena, Germany
  2. 2Private Practice in Gynaecology and Obstetrics, Berlin, Germany
  3. 3Centre for Medical Genetics and Molecular Medicine, Haukeland University Hospital, Bergen, Norway
  4. 4Institute of Human Genetics, Technical University Munich, Munich, Germany
  1. Correspondence to:
 Dr F von Eggeling, Institut für Humangenetik und Anthropologie, Klinikum der FSU Jena, 07740 Jena, Germany;
 fegg{at}mti-n.uni-jena.de

https://doi.org/10.1136/jmg.39.7.519

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    Uniparental disomy (UPD) describes the inheritance of a pair of chromosomes from only one parent, either as both homologues (heterodisomy), as two copies of one homologue (isodisomy), or as a mixture of heterodisomic and isodisomic segments. So far, UPD of whole chromosomes has been described in different clinical cases for most of the human chromosomes, except for maternal UPD(3), (5), (11), (12), (18), and (19) and paternal UPD(3), (4), (9), (12), (17), (18), and (19).1,2 Problems associated with UPD include trisomy mosaicism, homozygosity of autosomal recessively inherited mutations, and genomic imprinting. The latter describes the epigenetic phenomenon of a parental origin dependent gene expression. Cases with complete or segmental UPD might be helpful in mapping rare autosomal recessive disorders or chromosomal regions of genomic imprinting. We report here the first case of maternal uniparental disomy 12 in a healthy girl.

    CASE REPORT

    Amniocentesis was performed, because of advanced maternal age, in the 19th week of gestation in a 45 year old gravida 1, para 0 woman. Cytogenetic analysis using standard procedures showed a supernumerary marker chromosome (SMC, fig 1A) in 16 of 30 metaphase spreads (karyotype 47,XX,+mar [16]/46,XX [14]). The SMC was further characterised by centromere specific multicolour fluorescence in situ hybridisation (cenM-FISH)3 and, because several cases of SMC and UPD have been published,4 molecular analysis was undertaken.

    Figure 1

    Images were captured on a Zeiss Axioplan microscope (Zeiss Jena, Germany) with the IKAROS and ISIS digital FISH imaging systems (MetaSystems, Altlussheim, Germany) using an XC77 CCD camera with on chip integration …

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