PMID- 17598434
OWN - NLM
STAT- MEDLINE
DCOM- 20070712
LR  - 20070629
IS  - 0033-2674 (Print)
IS  - 0033-2674 (Linking)
VI  - 41
IP  - 2
DP  - 2007 Mar-Apr
TI  - [A study on the occurrence of the deletion 22q11.2 in patients affected with a 
      psychiatric disease].
PG  - 251-60
AB  - AIM: The aim of the study was an estimation of the rate of deletion 22q11.2 among 
      psychiatric patients and an attempt at the assessment of the degree in which this 
      rate is influenced by the coexistence of dysmorphic features and congenital 
      defects. METHODS: Cytogenetic examination was performed in 255 patients with 
      psychosis. Patients were divided into two groups. Group I was composed of 61 
      patients with psychosis and at least two phenotypic features characteristic of 
      22q11.2 deletion syndrome (22q11DS), group II was composed of 194 patients with 
      psychosis without phenotypic features of 22q11DS. Banding and fluorescence in 
      situ hybridization (FISH) techniques were applied. RESULTS: 22q11.2 deletion was 
      found in 3/61 patients of group I (4.9%) and in 3/255 among all psychiatric 
      patients (1.2%). This incidence was significantly higher than in the general 
      population (p < 0.001). The frequency of the deletion was even higher among 
      psychiatric patients revealing phenotypic features of 22q11DS: 3/61 (4.9%) (p < 
      0.0001). In all the cases with the deletion, the phenotype features were 
      characteristic of 22q11DS. Three other psychiatric patients had sex chromosomes' 
      aberrations: 47, XYY, 47, XXY and 47, XXX. Moreover one case of balanced 
      translocation t(2;10) (q10; q10) was detected. Conclusions. (1) 22q11.2 deletion 
      was found to be 40 times more common among psychiatric patients than in the 
      general population; sex chromosome aberrations are also significantly more common 
      than in the general population. (2) The presence of dysmorphic features and some 
      congenital defects in psychiatric patients increases the rate of deletion 22q11.2 
      significantly.
FAU - Pawlowska, Barbara
AU  - Pawlowska B
AD  - Zaklad Genetyki IPiN w Warszawie.
FAU - Tomankiewicz-Zawadzka, Anna
AU  - Tomankiewicz-Zawadzka A
FAU - Ilnicka, Alicja
AU  - Ilnicka A
FAU - Bogdanowicz, Joanna
AU  - Bogdanowicz J
FAU - Wciorka, Jacek
AU  - Wciorka J
FAU - Szafranski, Tomasz
AU  - Szafranski T
FAU - Wozniak, Piotr
AU  - Wozniak P
FAU - Meder, Joanna
AU  - Meder J
FAU - Szaniawska-Bartnicka, Agnieszka
AU  - Szaniawska-Bartnicka A
FAU - Zdzienicka, Elzbieta
AU  - Zdzienicka E
FAU - Szirkowiec, Walentyna
AU  - Szirkowiec W
FAU - Zaremba, Jacek
AU  - Zaremba J
LA  - pol
PT  - Comparative Study
PT  - English Abstract
PT  - Journal Article
TT  - Badania nad wystepowaniem delecji 22q11.2 u osob z choroba psychiczna.
PL  - Poland
TA  - Psychiatr Pol
JT  - Psychiatria polska
JID - 0103314
SB  - IM
MH  - Abnormalities, Multiple/genetics
MH  - Adult
MH  - Chromosome Banding
MH  - *Chromosomes, Human, Pair 22
MH  - Female
MH  - *Gene Deletion
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Male
MH  - Phenotype
MH  - Poland
MH  - Psychotic Disorders/*genetics
MH  - Syndrome
EDAT- 2007/06/30 09:00
MHDA- 2007/07/13 09:00
CRDT- 2007/06/30 09:00
PHST- 2007/06/30 09:00 [pubmed]
PHST- 2007/07/13 09:00 [medline]
PHST- 2007/06/30 09:00 [entrez]
PST - ppublish
SO  - Psychiatr Pol. 2007 Mar-Apr;41(2):251-60.