19q13 microdeletion syndrome: Further refining the critical region

Francesca Forzano; Flavia Napoli; Vera Uliana; Michela Malacarne; Chiara Viaggi; Raffaella Bloise; Domenico Coviello; Emilio Di Maria; Irene Olivieri; Natascia Di Iorgi; Francesca Faravelli

doi:10.1016/j.ejmg.2012.03.002

19q13 microdeletion syndrome: Further refining the critical region

Francesca Forzano, Flavia Napoli, Vera Uliana, Michela Malacarne, Chiara Viaggi, Raffaella Bloise, Domenico Coviello, Emilio Di Maria, Irene Olivieri, Natascia Di Iorgi, Francesca Faravelli

Research output: Contribution to journal › Article

Abstract

The 19q13 microdeletion syndrome is a recently identified disorder of which very few cases have been reported so far. Growth deficiency, microcephaly, ectodermal anomalies and intellectual disability are the major features reported in all the described cases. The critical region has been estimated to span 750 Kb. We report an Italian patient carrying a de novo 1.37 Mb deletion in chromosome 19q13, who presented all the cardinal features of the syndrome, and multiple pituitary hormone deficiency. Our findings might contribute to further refine the critical region to 460 Kb and restrict the list of candidate genes.

Original language	English
Pages (from-to)	429-432
Number of pages	4
Journal	European Journal of Medical Genetics
Volume	55
Issue number	6-7
DOIs	https://doi.org/10.1016/j.ejmg.2012.03.002
Publication status	Published - 2012

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Keywords

19q13 microdeletion syndrome
Aplasia cutis
Array-CGH
Microcephaly

ASJC Scopus subject areas

Genetics
Genetics(clinical)

Cite this

Forzano, F., Napoli, F., Uliana, V., Malacarne, M., Viaggi, C., Bloise, R., Coviello, D., Di Maria, E., Olivieri, I., Di Iorgi, N., & Faravelli, F. (2012). 19q13 microdeletion syndrome: Further refining the critical region. European Journal of Medical Genetics, 55(6-7), 429-432. https://doi.org/10.1016/j.ejmg.2012.03.002

19q13 microdeletion syndrome : Further refining the critical region. / Forzano, Francesca; Napoli, Flavia; Uliana, Vera; Malacarne, Michela; Viaggi, Chiara; Bloise, Raffaella; Coviello, Domenico; Di Maria, Emilio; Olivieri, Irene; Di Iorgi, Natascia; Faravelli, Francesca.

In: European Journal of Medical Genetics, Vol. 55, No. 6-7, 2012, p. 429-432.

Research output: Contribution to journal › Article

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10.1016/j.ejmg.2012.03.002