A case of small cerebral cyst and pericentric inversion of chromosome 9 that developed schizophrenia‐like psychosis

Abstract

A case of schizophrenia-like psychosis (psychotic disorder not otherwise specified according to the DSM-IV criteria) with pericentric inversion on chromosome 9 [inv.(9) (p11; q13)] is reported. In this case, a minor brain anomaly, a small cyst in the left subcortex, was observed on magnetic resonance imaging of the brain. In the clinical course, prominent chronic hallucinations were observed; however, there was no evidence of the disorganization of personality, delusion, and deterioration in level of functioning that are usually seen in schizophrenia. This case and a review of the literature indicate that the pericentric region of chromosome 9 might be a potential areas of interest for the aetiology of psychiatric disorders. The phenotype-karyotype relationship of pericentric inversion on chromosome 9 and its relationship to psychosis are discussed.

Homologous sequences at human chromosome 9 bands p12 and q13-21.1 are involved in different patterns of pericentric rearrangements

“…Even more strikingly, 13 out of the 17 cases with heteromorphism of chromosome 9 referred because of reproductive failure were female (see Table 1). In contrast, the risk to male inv(9)(p11q13) carriers of producing chromosomally abnormal offspring or spontaneous abortions was not increased in the study by Colls et al 40 There are many and varied clinical conditions reported to have an association with pericentric inversion 9 including mental retardation, 42 schizophrenia, 43 the WalkerWarburg syndrome, 44 the oculo-auriculo-vertebral (Goldenhar) spectrum 45 and cancer predisposition. 46 To date therefore, the clinical significance of the chromosome 9 heteromorphism still remains to be clarified.…”

Chromosome Polymorphism and Human Pathology: About 27 Cases of Chromosome 9 Inversion in the Beninese Population

“…Though some authors in literature have mentioned association of inv ( 9) and psychiatric disorders [8]; none case was recorded in our study Inv chr9 and prenatal pathology Inv ( 9) is considered as a polymorphic variation and is one of the most common forms of autosomal inversion diagnosed prenatally in amniocytes. Yet its clinical significance remains uncertain.…”

“…Most cytogeneticists consider it as a normal variant because of the occurrence of inv (9). Despite its categorization as a minor chromosomal rearrangement, which is not related to abnormal phenotype, some reports described inv (9) in association with subfertility and recurrent abortions, abnormal clinical conditions, as well as other chromosomal abnormalities [6] [7] [8].…”

Prenatal Diagnosis of Pericentric Inversion in Homologues of Chromosome 9: A Decision Dilemma

“…9 Inversion of chromosome 9 might be one of the etiologies of psychiatric disorders. 10 Two studies have shown that 3 to 4% of schizophrenic patients have inv (9), which is twice the incidence reported in the general population of Japan (1.7%). This observation suggests a possible association between inv(9) and schizophrenia.…”