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 | |
| 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
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
}
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 -