Chromosome 22q11.2 interstitial deletions among childhood-onset schizophrenics and "multidimensionally impaired".
Since its first description almost a century ago schizophrenia with childhood onset, a rare yet devastating disorder, has been diagnosed in children as young as age 5. Recently, the velocardiofacial syndrome, whose underlying cause is interstitial deletions of 22q11.2, was found in 2 of 100 cases of schizophrenics with adult onset [Karayiorgou et al., Proc Natl Acad Sci USA 92: 7612-7616, 1995]. No study has documented the prevalence of velocardiofacial syndrome and the 22q11.2 deletion in a population of schizophrenics with childhood onset. Here we describe the result of such a study in a sample originally selected for a trial of atypical antipsychotic drugs. A separate group of patients was also included in the study; they can best be accounted for as a variant of childhood-onset schizophrenia (COS) and had been provisionally termed "multidimensionally impaired." Fluorescent in situ hybridization screening of 32 COS and 21 multidimensionally impaired patients revealed 1 COS patient with an interstitial deletion spanning at least 2.5 megabases.
Yan
W
W
Child Psychiatry Branch, National Institute of Mental Health, Bethesda, Maryland 20892-4405, USA. wlyan@helix.nih.gov
Jacobsen
L K
LK
Krasnewich
D M
DM
Guan
X Y
XY
Lenane
M C
MC
Paul
S P
SP
Dalwadi
H N
HN
Zhang
H
H
Long
R T
RT
Kumra
S
S
Martin
B M
BM
Scambler
P J
PJ
Trent
J M
JM
Sidransky
E
E
Ginns
E I
EI
Rapoport
J L
JL
D002648:Child; D002675:Child, Preschool; D002869:Chromosome Aberrations; D025063:Chromosome Disorders; D002892:Chromosomes, Human, Pair 22; D004062:DiGeorge Syndrome / Q000235:genetics; D005260:Female; D017353:Gene Deletion; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007361:Intelligence Tests; D008297:Male; D012559:Schizophrenia / Q000235:genetics*; D012934:Social Isolation