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 › peer-review

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

Keywords

19q13 microdeletion syndrome
Aplasia cutis
Array-CGH
Microcephaly

ASJC Scopus subject areas

Genetics
Genetics(clinical)

Access to Document

10.1016/j.ejmg.2012.03.002

Cite this

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 › peer-review

@article{fb47aa2271314e618808e88d82dcf721,

title = "19q13 microdeletion syndrome: Further refining the critical region",

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.",

keywords = "19q13 microdeletion syndrome, Aplasia cutis, Array-CGH, Microcephaly",

author = "Francesca Forzano and Flavia Napoli and Vera Uliana and Michela Malacarne and Chiara Viaggi and Raffaella Bloise and Domenico Coviello and {Di Maria}, Emilio and Irene Olivieri and {Di Iorgi}, Natascia and Francesca Faravelli",

year = "2012",

doi = "10.1016/j.ejmg.2012.03.002",

language = "English",

volume = "55",

pages = "429--432",

journal = "European Journal of Medical Genetics",

issn = "1769-7212",

publisher = "Elsevier Masson SAS",

number = "6-7",

}

TY - JOUR

T1 - 19q13 microdeletion syndrome

T2 - Further refining the critical region

AU - Forzano, Francesca

AU - Napoli, Flavia

AU - Uliana, Vera

AU - Malacarne, Michela

AU - Viaggi, Chiara

AU - Bloise, Raffaella

AU - Coviello, Domenico

AU - Di Maria, Emilio

AU - Olivieri, Irene

AU - Di Iorgi, Natascia

AU - Faravelli, Francesca

PY - 2012

Y1 - 2012

N2 - 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.

AB - 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.

KW - 19q13 microdeletion syndrome

KW - Aplasia cutis

KW - Array-CGH

KW - Microcephaly

UR - http://www.scopus.com/inward/record.url?scp=84862185949&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=84862185949&partnerID=8YFLogxK

U2 - 10.1016/j.ejmg.2012.03.002

DO - 10.1016/j.ejmg.2012.03.002

M3 - Article

C2 - 22510526

AN - SCOPUS:84862185949

VL - 55

SP - 429

EP - 432

JO - European Journal of Medical Genetics

JF - European Journal of Medical Genetics

SN - 1769-7212

IS - 6-7

ER -

19q13 microdeletion syndrome: Further refining the critical region

Abstract

Keywords

ASJC Scopus subject areas

Access to Document

Other files and links

Fingerprint

Cite this