PMID- 20817432
OWN - NLM
STAT- MEDLINE
DCOM- 20110815
LR  - 20140520
IS  - 1872-7131 (Electronic)
IS  - 0387-7604 (Linking)
VI  - 33
IP  - 5
DP  - 2011 May
TI  - Electroclinical findings in four patients with karyotype 47,XYY.
PG  - 384-9
LID - 10.1016/j.braindev.2010.07.010 [doi]
AB  - 47,XYY karyotype is a Y chromosome aneuploidy characterized by an extra copy of 
      the Y chromosome in each of the male cells, with an incidence of 1/1000 males. 
      Most studies about 47,XYY have focused on growth, cognitive development, academic 
      performance, behavioural problems, speech and language skills and neuromuscular 
      status. Up-to-date reports on seizures and EEG characteristics concerning 47,XYY 
      men have been sporadic and poorly detailed. The aim of this study is to describe 
      the particular electroclinical patterns in a group of four subjects with 47,XYY 
      karyotype. We performed neurological examinations, psychometric tests, brain 
      MRIs, prolonged EEG recordings during awake and sleep on four unselected males 
      47,XYY. All four patients presented various degrees of neuropsychological 
      impairment. An incidence of familial antecedents for epilepsy was confirmed by 
      three families. When present, seizures were very similar to that of benign 
      epilepsy with central-temporal spikes, (BECTS), for age of onset, clinical 
      picture, evolution and good response to antiepileptic drugs. EEG recordings in 
      all four subjects showed normal background activity and sleep organization, 
      particular focal spikes and sharp-waves localized mostly over the vertex and/or 
      central-temporal regions, which increased during sleep. In our opinion, these 
      47,XYY patients present a particular electroclinical pattern.
CI  - Copyright (c) 2010 The Japanese Society of Child Neurology. Published by Elsevier 
      B.V. All rights reserved.
FAU - Torniero, Claudia
AU  - Torniero C
AD  - Child Neuropsychiatry Unit, University of Verona, Italy. c.torniero@libero.it
FAU - Bernardina, Bernardo Dalla
AU  - Bernardina BD
FAU - Fontana, Elena
AU  - Fontana E
FAU - Darra, Francesca
AU  - Darra F
FAU - Danesino, Cesare
AU  - Danesino C
FAU - Elia, Maurizio
AU  - Elia M
LA  - eng
PT  - Case Reports
PT  - Journal Article
DEP - 20100916
PL  - Netherlands
TA  - Brain Dev
JT  - Brain & development
JID - 7909235
SB  - IM
CIN - Brain Dev. 2014 May;36(5):413. PMID: 24332896
MH  - Child
MH  - Child, Preschool
MH  - Electroencephalography/*methods
MH  - Female
MH  - Humans
MH  - Magnetic Resonance Imaging
MH  - Male
MH  - Neurologic Examination
MH  - Neuropsychological Tests
MH  - Seizures/physiopathology
MH  - XYY Karyotype/*physiopathology
EDAT- 2010/09/08 06:00
MHDA- 2011/08/16 06:00
CRDT- 2010/09/07 06:00
PHST- 2010/01/05 00:00 [received]
PHST- 2010/06/19 00:00 [revised]
PHST- 2010/07/24 00:00 [accepted]
PHST- 2010/09/07 06:00 [entrez]
PHST- 2010/09/08 06:00 [pubmed]
PHST- 2011/08/16 06:00 [medline]
AID - S0387-7604(10)00185-3 [pii]
AID - 10.1016/j.braindev.2010.07.010 [doi]
PST - ppublish
SO  - Brain Dev. 2011 May;33(5):384-9. doi: 10.1016/j.braindev.2010.07.010. Epub 2010 
      Sep 16.