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Silver-Russell phenotype in a patient with pure trisomy 1q32.1-q42.1: further delineation of the pure 1q trisomy syndrome
  1. M M van Haelst1,
  2. H J F M M Eussen1,
  3. F Visscher4,
  4. J L M de Ruijter1,
  5. S L S Drop2,
  6. D Lindhout3,
  7. C H Wouters1,
  8. L C P Govaerts1
  1. 1Department of Clinical Genetics, Erasmus University Rotterdam, Westzeedijk 112, 3016 AH Rotterdam, The Netherlands
  2. 2Department of Endocrinology, University Hospital Dijkzigt/Sophia Children’s Hospital, Rotterdam, The Netherlands
  3. 3Department of Medical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands
  4. 4Department of Neurology, Oosterschelde Hospital, Goes, The Netherlands
  1. Correspondence to:
 Dr L C P Govaerts, Department of Clinical Genetics, Erasmus University Rotterdam, Westzeedijk 112, 3016 AH Rotterdam, The Netherlands;

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Partial duplication of the long arm of chromosome 1 has been described in more than 200 patients. In most of these cases, the duplication is the result of an unbalanced segregation of a parental balanced translocation. Patients with duplications of 1q are therefore monosomic for the other chromosomal material involved in the translocation. The phenotypic result of such chromosomal abnormalities is difficult to predict. We present a patient with a pure de novo duplication of chromosome 1q32.1-q42.1. The phenotype described here is solely the result of the trisomy 1q32.1-q42.1. Our patient has many features in common with Silver-Russell syndrome and several previously reported patients with chromosomal abnormalities have had features suggestive of Silver-Russell syndrome.1 To our knowledge this is the first description of a patient with a pure de novo trisomy of chromosome 1q32.1-q42.1. Pure trisomy 1q32.3-q42 has been reported once and pure trisomy 1q32-q42 has been reported twice before.2–4 More reports of patients with this cytogenetic abnormality are needed for further delineation of the phenotype.


The proband, 28 years of age, is the second child of healthy, unrelated, Dutch parents. The pregnancy was complicated by oligohydramnios. He was born at 37 weeks of gestation following a normal delivery. At birth, weight was 1960 g (<3rd centile) and length was 45 cm (<3rd centile). The placenta was small and showed infarctions. He had two healthy sisters. Family history was positive for short stature; his mother and maternal grandmother had a height of 1.49 m and 1.48 m, respectively (both below the 3rd centile). His father had a horseshoe kidney and slight hydronephrosis. A paternal uncle had a club foot for which he was operated on. A maternal uncle had a heart defect.

Feeding problems and repeated infections were …

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