Psychiatric disorder in a familial 15;18 translocation and sublocalization of myelin basic protein of 18q22.3.
Two related patients with similar clinical features consisting of a few dysmorphic signs and psychiatric disturbance were reported to have a partial trisomy of chromosomes 15(pter-q13.3) and 18(q23-qter) deriving from a familial translocation t(15;18). One patient is affected by bipolar disorder and the other by schizoaffective disorder. Both cases have a predominantly affective course; nevertheless, a clear diagnosis is difficult in the first patient, who is 15 years of age, and only a longitudinal course will allow us to establish a definite diagnosis. The possibility that these two pathologies belong to a single category is discussed, and the presence of a susceptibility locus on chromosome 18 is hypothesized. Cytogenetic data, FISH, and DNA studies indicate that the myelin basic protein (MPB) gene is not involved in the translocation, and localize it centromeric to the breakpoint on chromosome 18(q22.3). Thus, it is unlikely to be involved in the disease.
Calzolari
E
E
Istituto di Genetica Medica, Universitá Ferrara, Universitá Ferrara, Italy.
Aiello
V
V
Palazzi
P
P
Sensi
A
A
Calzolari
S
S
Orrico
D
D
Calliari
L
L
Holler
H
H
Marzi
C
C
Belli
S
S
Bernardi
F
F
Patracchini
P
P
D000293:Adolescent; D016282:Aspartic Acid Endopeptidases / Q000378:metabolism; D001483:Base Sequence; D001714:Bipolar Disorder / Q000235:genetics* / Q000503:physiopathology; D002478:Cells, Cultured; D002884:Chromosomes, Human, Pair 15; D002887:Chromosomes, Human, Pair 18; D017931:DNA Primers; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007963:Leukocytes, Mononuclear / Q000166:cytology; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D004676:Myelin Basic Protein / Q000235:genetics*; D010375:Pedigree; D012559:Schizophrenia / Q000235:genetics* / Q000503:physiopathology; D014178:Translocation, Genetic
D017931:DNA Primers; D004676:Myelin Basic Protein; C022325:aspartic proteinase A; D016282:Aspartic Acid Endopeptidases