A narrow segment of maternal uniparental disomy of chromosome 7q31-qter in Silver-Russell syndrome delimits a candidate gene region

Am J Hum Genet. 2001 Jan;68(1):247-53. doi: 10.1086/316937. Epub 2000 Dec 8.


Maternal uniparental disomy of chromosome 7 (matUPD7), the inheritance of both chromosomes from only the mother, is observed in approximately 10% of patients with Silver-Russell syndrome (SRS). It has been suggested that at least one imprinted gene that regulates growth and development resides on human chromosome 7. To date, three imprinted genes-PEG1/MEST, gamma2-COP, and GRB10-have been identified on chromosome 7, but their role in the etiology of SRS remains uncertain. In a systematic screening with microsatellite markers, for matUPD7 cases among patients with SRS, we identified a patient who had a small segment of matUPD7 and biparental inheritance of the remainder of chromosome 7. Such a pattern may be explained by somatic recombination in the zygote. The matUPD7 segment at 7q31-qter extends for 35 Mb and includes the imprinted gene cluster of PEG1/MEST and gamma2-COP at 7q32. GRB10 at 7p11.2-p12 is located within a region of biparental inheritance. Although partial UPD has previously been reported for chromosomes 6, 11, 14, and 15, this is the first report of a patient with SRS who has segmental matUPD7. Our findings delimit a candidate imprinted region sufficient to cause SRS.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Abnormalities, Multiple / physiopathology
  • Aneuploidy*
  • Carrier Proteins / genetics
  • Chromosome Mapping
  • Chromosomes, Human, Pair 7 / genetics*
  • Coatomer Protein
  • Crossing Over, Genetic / genetics
  • Fathers
  • Female
  • Genomic Imprinting / genetics*
  • Growth Disorders / genetics*
  • Growth Disorders / physiopathology
  • Humans
  • Infant
  • Male
  • Microsatellite Repeats / genetics
  • Mothers
  • Proteins / genetics
  • Syndrome


  • COPG2 protein, human
  • Carrier Proteins
  • Coatomer Protein
  • Proteins
  • mesoderm specific transcript protein