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Loss of the SHOX gene associated with Leri-Weill dyschondrosteosis in a 45,X male
  1. L Stuppiaa,b,
  2. G Calabresea,
  3. P Borrellic,
  4. V Gattaa,
  5. E Morizioa,
  6. R Mingarellid,
  7. M C Di Gilioe,
  8. A Crinòc,
  9. A Giannottie,
  10. G A Rappoldf,
  11. G Palkaa
  1. aDipartimento di Scienze Biomediche, Sezione di Genetica Medica, Università di Chieti, Italy, bIstituto di Citomorfologia Umana Normale e Patologica del CNR, Chieti, Italy, cDivisioni di Endocrinologia, Ospedale Bambin Gesù, Roma, Italy, dIstituto CSS Mendel, Roma, Italy, eDivisioni di Genetica, Ospedale Bambin Gesù, Roma, Italy, fInstitute of Human Genetics, University of Heidelberg, Im Neuenheimer 328, Heidelberg, Germany
  1. Dr Palka, Via B Buozzi 93, 65100 Pescara, Italy.

Abstract

A male patient is reported with a 45,X karyotype and Leri-Weill dyschondrosteosis (LWD). FISH analysis withSHOX and SRY gene probes was carried out. One copy of bothSHOX and SRY was detected in interphase nuclei, clarifying the origin of LWD and the male phenotype. Molecular results suggested that the 45,X karyotype arose through two independent events. The first occurred at paternal meiosis leading to an unequal crossing over between the short arms of the X and Y chromosomes. As a consequence, theSRY gene was translocated onto Xp, thereby explaining the male phenotype of the patient. The second event probably occurred at maternal meiosis or at the early stages of the zygote resulting in the loss of the maternal X chromosome.

  • 45,X karyotype
  • Leri-Weill syndrome
  • SHOX gene

https://doi.org/10.1136/jmg.36.9.711

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