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Two further cases of WHS with unbalanced de novo translocation t(4;8) characterised by CGH and FISH
  1. Holger Tönniesa,
  2. Markus Stummb,
  3. Luitgard Neumanna,
  4. Marianne Vollethb,
  5. Uta Grumpeltc,
  6. Jörg Müsebeckb,
  7. Gisela Annussd,
  8. Heidemarie Neitzela
  1. aInstitute of Human Genetics, Charité, Campus Virchow-Klinikum, Humboldt-University, Institut für Humangenetik, Chromosomendiagnostik, Molekulare Zytogenetik, Augustenburger Platz 1, D-13353 Berlin, Germany, bInstitute of Human Genetics, University Hospital, Otto-von-Guericke University, Magdeburg, Germany, cChildren's Hospital, Harz-Klinikum Wernigerode GmbH, Wernigerode, Germany, dHuman Genetics, Klinikum Buch, Berlin, Germany
  1. Dr Tönnies,Holger.Toennies{at}

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Editor—In the October 2000 issue of the journal, five new cases of unbalanced translocations with partial monosomy 4p and partial trisomy 8p were described by Wieczorek et al 1 and the authors concluded that de novo translocations causing Wolf-Hirschhorn syndrome (WHS) are more frequent than previously estimated. In particular, unbalanced de novo translocations involving the short arms of chromosomes 4 and 8 seem to be frequent in WHS patients. Furthermore, because of the limited resolution of cytogenetic techniques, some cryptic translocations can be missed by routinely performed cytogenetic differential diagnosis. Therefore, the authors emphasised the necessity of investigating all patients with WHS and visible chromosomal imbalances in chromosome 4p by fluorescence in situ hybridisation (FISH), using a chromosome 4 specific painting probe (whole chromosome painting, wcp) to detect possible translocations. Here we report on two further cases with unbalanced de novo translocations t(4;8). The unbalanced translocation was not detectable by conventional cytogenetics alone and was also not detectable just by painting with a chromosome 4 specific library. We have chosen a different strategy using the comparative genomic hybridisation (CGH) technique as a straightforward molecular cytogenetic assay to unravel unbalanced chromosomal translocations. Subsequently, the CGH results were confirmed by FISH.

Case reports

Patient 1 was the first child born to a 25 year old mother and a 30 year old father. The boy was born spontaneously in the 42nd week of gestation after an uncomplicated pregnancy. Birth measurements were in the lower range, weight 3320 g (10th-25th centile), length 52 cm (25th-50th centile), and occipitofrontal circumference (OFC) 34 cm (3rd-10th centile). Apgar scores were 9/9/8. In addition to the clinical manifestations listed in table 1, the child presented with microphthalmia on the right side and incomplete anophthalmia on the left side, with bluish swellings of the lower lids. Bilateral orbital cysts …

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