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.

Isochromosome 15q of maternal origin in a Prader-Willi patient with pituitary adenoma / D. Bettio, D. Giardino, N. Rizzi, P. Riva, L. Volpi, E. Barantani, A. Tagliaferri, L. Larizza. - In: ACTA GENETICAE MEDICAE ET GEMELLOLOGIAE. - ISSN 0001-5660. - 45:1-2(1996), pp. 213-216.

Isochromosome 15q of maternal origin in a Prader-Willi patient with pituitary adenoma

P. Riva;L. Volpi;L. Larizza
Ultimo
1996

Abstract

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.
15q15q Robertsonian translocation; Imprinting; Isochromosome 15; Prader-Willi syndrome; Uniparental disomy
Settore MED/03 - Genetica Medica
Settore BIO/13 - Biologia Applicata
1996
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/2434/188649
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