LETTER TO JMG

Maternal uniparental disomy 12 in a healthy girl with a 47,XX,+der(12)(:p11q11:)/46,XX karyotype

F von Eggeling¹, C Hoppe¹, U Bartz², H Starke¹, G Houge³, U Claussen¹, G Ernst¹, D Kotzot⁴, T Liehr¹

¹ Institute of Human Genetics and Anthropology, University of Jena, Jena, Germany
² Private Practice in Gynaecology and Obstetrics, Berlin, Germany
³ Centre for Medical Genetics and Molecular Medicine, Haukeland University Hospital, Bergen, Norway
⁴ Institute of Human Genetics, Technical University Munich, Munich, Germany

Correspondence to:
Correspondence to:
Dr F von Eggeling, Institut für Humangenetik und Anthropologie, Klinikum der FSU Jena, 07740 Jena, Germany;
fegg@mti-n.uni-jena.de

Keywords: chromosome 12; centromere specific multicolour FISH; uniparental disomy

Abbreviations: UPD, uniparental disomy; cenM-FISH, centromere specific multicolour FISH; SMC, supernumerary marker chromosome

The first 150 words of the full text of this article appear below.

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.

Amniocentesis was performed, because of advanced maternal age, in the . . . [Full text of this article]

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This article has been cited by other articles:

• Kotzot, D (2008). Complex and segmental uniparental disomy updated. J. Med. Genet. 45: 545-556 [Abstract] [Full Text]  
• Kotzot, D (2002). Supernumerary marker chromosomes (SMC) and uniparental disomy (UPD): coincidence or consequence?. J. Med. Genet. 39: 775-778 [Full Text]