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Interstitial telomeres of an inv(9)(p11.2;q34) involved in a jumping translocation found in a woman through a stable unbalanced translocation in her malformed child
  1. E Sala1,
  2. N Villa1,
  3. P Riva2,
  4. T Varisco3,
  5. L Larizza2,
  6. L Dalprà4
  1. 1Genetic Lab, H S Gerardo dei Tintori, Monza, Italy
  2. 2Dept Biology and Genetics for Medical Sciences, University of Milan, Italy
  3. 3Paediatric Clinic, H Desio, Italy
  4. 4Department of Experimental Environmental Medicine and Medical Biotechnology, University of Milano-Bicocca, Italy
  1. Correspondence to:
 Dr L Dalprà, Department of Experimental Environmental Medicine and Medical Biotechnology, C/o Genetic Lab, H S Gerardo dei Tintori, Via Solferino 16, 20052 Monza, Italy;

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According to the original definition by Lejeune et al,1 a constitutional jumping translocation (JT) is a non-reciprocal, unstable translocation of a specific chromosomal segment onto the ends of various chromosomes, which leads to a rearranged chromosome with interstitial telomeres. More than 20 cases of constitutional JTs have been reported so far,2–6 and JTs have also been detected in chromosomal instability syndromes7,8 and in about 20 tumours, mainly of the haematological type.9

Most cases of constitutional JTs involve acrocentric chromosomes as either donors or recipients, with a few balanced and unbalanced Robertsonian translocations. Whatever the partner chromosomes, the chromosomal regions around the majority of JT breakpoints are pericentromeric and subtelomeric and are built up of arrays of tandemly repeated sequences.4 In particular, the qh region of chromosome 1 seems be non-randomly involved in the JTs detected in most haematological neoplasms.9

We report here the case of a woman carrying JTs in which the donor segment originated from the short arm of chromosome 9. A particular aspect of this case is the presence of an inv(9)(p11.2;q34) chromosome in the constitutional karyotype, and the transmission of the most often represented JT (9;17)(p11.2;qter) to her malformed child.


Case report

The infant is the first and only child, spontaneously delivered at term after an uneventful pregnancy when the mother was 38 years old. His birth weight was 2720 g (<10th centile), length 49 cm (<25th centile), and head circumference 35 cm (50th centile). As a newborn, he showed facial dysmorphism including hypertelorism, a flat nasal bridge, and low set ears, bony abnormalities of both hands and feet (camptodactyly and talipes equinovarus with partial syndactyly of the second and third fingers), and unilateral cryptorchidism. During the first postnatal week, he experienced mild respiratory distress and oliguria. Echocardiography showed a …

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