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Silver-Russell syndrome and ring chromosome 7
  1. EMMA L WAKELING*†,
  2. MEGAN HITCHINS*†,
  3. PHILIP STANIER*,
  4. DAVID MONK*,
  5. GUDRUN E MOORE*,
  6. MICHAEL A PREECE*†
  1. * Action Research Laboratory for the Molecular Biology of Fetal Development, Division of Paediatrics, Obstetrics and Gynaecology, Imperial College School of Medicine, Queen Charlotte's and Chelsea Hospital, Goldhawk Road, London W6 0XG, UK
  2. † Biochemistry, Endocrinology and Metabolism Unit, Institute of Child Health, University College London, 30 Guilford Street, London WC1N 1EH, UK
  1. Professor Preece, mpreece{at}ich.ucl.ac.uk

https://doi.org/10.1136/jmg.37.5.380

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    Editor—We read the recent paper by Miyoshiet al 1 with great interest. They report a child with Silver-Russell syndrome (SRS) and maternal uniparental disomy of chromosome 7 (mUPD7), with 30% mosaicism for an additional ring chromosome 7 of paternal origin. As the ring contained four CA repeat polymorphic markers which map to the region 7p13-q11 (D7S2552, D7S499, D7S494, and D7S2503), they concluded that imprinted genes within this region can be ruled out as candidates for SRS. While the data are interesting, we feel that they are inadequate to support this conclusion.

    Firstly, the genetic distance spanned by the four markers used to define the extent of biparental inheritance is small (2.26 cM between 64.81 and 67.07 cM). …

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