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J Med Genet. 1984 Apr;21(2):149-51.

Familial pericentric inversion (13) detected by antenatal diagnosis.

Abstract

A recombinant rec (13), dup q chromosome was diagnosed in a 17-week fetus following amniocentesis. Subsequently, a familial pericentric inversion of chromosome 13 was seen to be segregating in the family and the same recombinant 13 was present in a mentally retarded aunt of the fetus. The clinical features of the carriers of the inversion product are discussed with reference to previous cases.

PMID:
6716417
PMCID:
PMC1049248
[PubMed - indexed for MEDLINE]
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