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. 1988 Apr 9;1(8589):799-801.
doi: 10.1016/s0140-6736(88)91660-1.

Partial trisomy chromosome 5 cosegregating with schizophrenia

A S Bassett  1 , B C McGillivray, B D Jones, J T Pantzar
Affiliations

Partial trisomy chromosome 5 cosegregating with schizophrenia

A S Bassett et al. Lancet. .

Abstract

Schizophrenia was associated with a distinct autosomal abnormality in two related mildly dysmorphic individuals. The finding of cosegregation of schizophrenia and a partial trisomy of chromosome 5 in the family suggests a potential location of a gene or genes linked to schizophrenia.

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Figures

Fig 1
Fig 1. Partial G-banded karyotype and ISCN idiogram of chromosomes 1 and 5 of the proband (identical to that of the affected maternal uncle)
Both chromosomes 5 are intact. One of the chromosomes 1 [der(1)] shows insertion of the extra 5q11.2 to 5q13.3 segment into its long arm at the band lq32.3, indicated by the arrow. The karyotype is 46,XY, der(1) invins (1;5)(q32.3;q13.3q11.2). It contains three copies of the proximal 5q segment 5q11.2 to 5q13.3.
Fig 2
Fig 2. Partial G-banded karyotype and ISCN idiogram (chromosomes 1 and 5) of the proband’s mother
There is a balanced insertion of a proximal 5q segment into the long arm of chromosome 1 [der(1)]. High resolution studies suggest that the inserted segment had also inverted. The 5q arm of the involved chromosome [der (5)] has a deletion of the 5q11.2 to 5q13.3 segment indicated by the arrow. Detailed analysis of all other chromosomes revealed no structural rearrangements at the 400–500 band level. The maternal karyotype is 46,XX, invins (1;5) (q32.3;q13.3q11.2)?mat?pat.
Fig 3
Fig 3. Family pedigree showing cosegregation of schizophrenia, physical abnormalities, and a partial trisomy of chromosome 5
formula imagepartial trisomy chromosome 5; formula image balanced translocation carrier; formula image normal chromosomes; formula image schizophrenia; formula image no mental illness; formula image physical abnormalities; formula image no physical abnormalities.
See this image and copyright information in PMC

References

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