TY - JOUR
T1 - Chromosome 17q21.31 duplication syndrome
T2 - Description of a new familiar case and further delineation of the clinical spectrum
AU - Natacci, Federica
AU - Alfei, Enrico
AU - Tararà, Lucia
AU - D'Arrigo, Stefano
AU - Zuffardi, Orsetta
AU - Gentilin, Barbara
AU - Pantaleoni, Chiara
PY - 2016/1/1
Y1 - 2016/1/1
N2 - Introduction 17q21.31 microduplication syndrome is a recently described condition associated with a broad clinical spectrum, of which psychomotor delay, behavioral disorders and poor social interaction seem to be the most consistent features. Only seven patients have been reported thus far. All have behavioral disorders reminiscent of the autistic spectrum with intellectual skills ranging from normal to mild intellectual deficiency. Other features are variable with no striking common phenotypic features. Case study Here we describe the segregation of 17q21.31 duplication in an Italian family. Discussion Clinical features and genetic data are reported, and compared with previously reported patients with 17q21.31 microduplication. A comparison of clinical manifestations between deletion and duplication syndromes of the chromosome regione is provided.
AB - Introduction 17q21.31 microduplication syndrome is a recently described condition associated with a broad clinical spectrum, of which psychomotor delay, behavioral disorders and poor social interaction seem to be the most consistent features. Only seven patients have been reported thus far. All have behavioral disorders reminiscent of the autistic spectrum with intellectual skills ranging from normal to mild intellectual deficiency. Other features are variable with no striking common phenotypic features. Case study Here we describe the segregation of 17q21.31 duplication in an Italian family. Discussion Clinical features and genetic data are reported, and compared with previously reported patients with 17q21.31 microduplication. A comparison of clinical manifestations between deletion and duplication syndromes of the chromosome regione is provided.
KW - 17q21.31 microduplication
KW - Autism spectrum disorder
KW - Genetic syndrome
KW - Intellectual disability
KW - KANSL1
KW - Psychomotor delay
UR - http://www.scopus.com/inward/record.url?scp=84950341342&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=84950341342&partnerID=8YFLogxK
U2 - 10.1016/j.ejpn.2015.09.010
DO - 10.1016/j.ejpn.2015.09.010
M3 - Article
C2 - 26565673
AN - SCOPUS:84950341342
VL - 20
SP - 183
EP - 187
JO - European Journal of Paediatric Neurology
JF - European Journal of Paediatric Neurology
SN - 1090-3798
IS - 1
ER -