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

Bernhard Horsthemke; Anneke Maat-Kievit; Eva Sleegers; Ans Van Den Ouweland; Karin Buiting; Christina Lieh; Paul Mollevanger; Geoff Beverstock; Gabriele Gillessen-Kaesbach; Gesa Schwanitz

doi:10.1136/jmg.33.10.848

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

Bernhard Horsthemke^*, Anneke Maat-Kievit, Eva Sleegers, Ans Van Den Ouweland, Karin Buiting, Christina Lieh, Paul Mollevanger, Geoff Beverstock, Gabriele Gillessen-Kaesbach, Gesa Schwanitz

^*Corresponding author for this work

Institute of Human Genetics

35 Citations (Scopus)

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.

Original language	English
Journal	Journal of Medical Genetics
Volume	33
Issue number	10
Pages (from-to)	848-851
Number of pages	4
ISSN	0022-2593
DOIs	https://doi.org/10.1136/jmg.33.10.848
Publication status	Published - 1996

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10.1136/jmg.33.10.848

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Horsthemke, B., Maat-Kievit, A., Sleegers, E., Van Den Ouweland, A., Buiting, K., Lieh, C., Mollevanger, P., Beverstock, G., Gillessen-Kaesbach, G., & Schwanitz, G. (1996). Familial translocations involving 15q11-q13 can give rise to interstitial deletions causing Prader-Willi or Angelman syndrome. Journal of Medical Genetics, 33(10), 848-851. https://doi.org/10.1136/jmg.33.10.848

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title = "Familial translocations involving 15q11-q13 can give rise to interstitial deletions causing Prader-Willi or Angelman syndrome",

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.",

author = "Bernhard Horsthemke and Anneke Maat-Kievit and Eva Sleegers and \{Van Den Ouweland\}, Ans and Karin Buiting and Christina Lieh and Paul Mollevanger and Geoff Beverstock and Gabriele Gillessen-Kaesbach and Gesa Schwanitz",

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Horsthemke, B, Maat-Kievit, A, Sleegers, E, Van Den Ouweland, A, Buiting, K, Lieh, C, Mollevanger, P, Beverstock, G, Gillessen-Kaesbach, G & Schwanitz, G 1996, 'Familial translocations involving 15q11-q13 can give rise to interstitial deletions causing Prader-Willi or Angelman syndrome', Journal of Medical Genetics, vol. 33, no. 10, pp. 848-851. https://doi.org/10.1136/jmg.33.10.848

TY - JOUR

T1 - Familial translocations involving 15q11-q13 can give rise to interstitial deletions causing Prader-Willi or Angelman syndrome

AU - Horsthemke, Bernhard

AU - Maat-Kievit, Anneke

AU - Sleegers, Eva

AU - Van Den Ouweland, Ans

AU - Buiting, Karin

AU - Lieh, Christina

AU - Mollevanger, Paul

AU - Beverstock, Geoff

AU - Gillessen-Kaesbach, Gabriele

AU - Schwanitz, Gesa

PY - 1996

Y1 - 1996

N2 - 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.

AB - 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.

UR - https://www.scopus.com/pages/publications/19244362120

U2 - 10.1136/jmg.33.10.848

DO - 10.1136/jmg.33.10.848

M3 - Journal articles

C2 - 8933339

AN - SCOPUS:19244362120

SN - 0022-2593

VL - 33

SP - 848

EP - 851

JO - Journal of Medical Genetics

JF - Journal of Medical Genetics

IS - 10

ER -

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

Abstract

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