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Fine mapping of an isodicentric Y chromosomal breakpoint from a schizophrenic patient

We report on a male schizophrenic patient who carried an isodicentric Y chromosome [idic(Y)] with a mosaic karyotype [mos 45,X/46,X,idic(Y)(q11)]. Although a potential association between sex chromosome abnormalities and a susceptibility to psychoses has been documented, there has only been one previous report of idic(Y) coincident with schizophrenia. The [45,X] karyotype is known to be associated with Turner syndrome (TS), but our patient lacked most of the phenotypic features of TS, except for short stature. To define the precise position of the breakpoint on the patient's abnormal Y chromosome, we carried out polymerase chain reaction (PCR) analysis, using primers for 15 marker loci along the chromosome. The breakpoint was localized to between the marker loci sY118 and sY119 on Yq in the 5M interval of the deletion map. This position represents the most centromeric breakpoint recorded for idic(Y). We cannot exclude the possibility that the development of schizophrenia is unrelated to the Y chromosome abnormality in this patient but we hope that this study will stimulate further cytogenetic and molecular genetic analyses of Y chromosome regions that may influence psychiatric traits. © 2002 Wiley‐Liss, Inc.