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Case Reports
. 1984 Apr;21(2):151-3.
doi: 10.1136/jmg.21.2.151.

Trisomy 18 phenotype in a patient with an isopseudodicentric 18 chromosome

E A Wulfsberg, R S Sparkes, I J Klisak, A Teng
Case Reports

Trisomy 18 phenotype in a patient with an isopseudodicentric 18 chromosome

E A Wulfsberg et al. J Med Genet. 1984 Apr.

Abstract

We report a female patient with a typical trisomy 18 phenotype who has a 46,XX, -18, +isopseudodic(18)(p11) karotype. The lack of features of the 18p- syndrome suggests that a significant amount of short arm material is present and that the Turner-like features associated with 18p- may be determined by monosomy for 18p11. The phenotype-genotype correlations in abnormalities affecting chromosome 18 are reviewed.

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