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Isochromosome 15q of Maternal Origin in a Prader-Willi Patient with Pituitary Adenoma

Published online by Cambridge University Press:  01 August 2014

D. Bettio ,
D. Giardino ,
N. Rizzi ,
P. Riva ,
L. Volpi ,
E. Barantani ,
A. Tagliaferri  and
L. Larizza
D. Bettio*
Affiliation:
Laboratorio di Citogenetica, Centro Auxologico Italiano, Milano, Italy
D. Giardino
Affiliation:
Laboratorio di Citogenetica, Centro Auxologico Italiano, Milano, Italy
N. Rizzi
Affiliation:
Laboratorio di Citogenetica, Centro Auxologico Italiano, Milano, Italy
P. Riva
Affiliation:
Dipartimento di Biologia e Genetica per le Scienze Mediche, Università di Milano, Italy
L. Volpi
Affiliation:
Dipartimento di Biologia e Genetica per le Scienze Mediche, Università di Milano, Italy
E. Barantani
Affiliation:
Divisione di Endocrinologia, Ospedale San Giuseppe, Centro Auxologico Italiano di Fiancavano, Italy
A. Tagliaferri
Affiliation:
Divisione di Endocrinologia, Ospedale San Giuseppe, Centro Auxologico Italiano di Fiancavano, Italy
L. Larizza
Affiliation:
Laboratorio di Citogenetica, Centro Auxologico Italiano, Milano, Italy Dipartimento di Biologia e Genetica per le Scienze Mediche, Università di Milano, Italy
*
Laboratorio di Citogenetica, Centro Auxologico Italiano, Via Ariosto 13, 1-20145 Milano (Italy)

Abstract

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We report on a Prader-Willi syndrome (PWS) patient carrier of a balanced 15q15q translocation and affected by a prolactin-secreting pituitary adenoma. Evidence provided by molecular studies indicates that the structural rearrangement is an isochromosome of maternal origin. According to the identification of isodisomy as the basis of the association of rare disorders and the recent report on chromosome 15 monosomy and nullisomy in pituitary adenoma, we suggest that in our case PWS and pituitary adenoma might be related.

Keywords

Prader-Willi syndromeUniparental disomyImprinting15q15q Robertsonian translocationIsochromosome 15
Type
Research Article
Information
Acta geneticae medicae et gemellologiae: twin research , Volume 45 , Issue 1-2 , April 1996 , pp. 213 - 216
Copyright
Copyright © The International Society for Twin Studies 1996

References

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