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. 1996 Oct;33(10):848–851. doi: 10.1136/jmg.33.10.848

Familial translocations involving 15q11-q13 can give rise to interstitial deletions causing Prader-Willi or Angelman syndrome.

B Horsthemke 1, A Maat-Kievit 1, E Sleegers 1, A van den Ouweland 1, K Buiting 1, C Lich 1, P Mollevanger 1, G Beverstock 1, G Gillessen-Kaesbach 1, G Schwanitz 1
PMCID: PMC1050765  PMID: 8933339

Abstract

A de novo interstitial deletion of 15q11-q13 is the major cause of Prader-Willi syndrome (PWS) and Angelman syndrome (AS). Here we describe two unrelated PWS patients with a typical deletion, whose fathers have a balanced translocation involving the PWS/AS region. Microsatellite data suggest that the deletion is the result of an unequal crossover between the derivative chromosome 15 and the normal chromosome 15. We conclude that familial translocations involving 15q11-q13 can give rise to interstitial deletions causing PWS or AS and that prenatal diagnosis in such families should include fluorescence in situ hybridisation or microsatellite studies or both.

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Selected References

These references are in PubMed. This may not be the complete list of references from this article.

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