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Case Reports
. 1981 Oct;18(5):390-2.
doi: 10.1136/jmg.18.5.390.

Normal psychomotor development in a child with mosaic trisomy and pericentric inversion of chromosome 9

M Frydman, F Shabtal, I Halbrecht, E Elian
Case Reports

Normal psychomotor development in a child with mosaic trisomy and pericentric inversion of chromosome 9

M Frydman et al. J Med Genet. 1981 Oct.

Abstract

A female infant with trisomy 9 in 58% of her cells is reported. Multiple congenital malformations were present, but she had normal psychomotor development. A pericentric inversion involving a portion of the centromeric heterochromatin of chromosome 9 was identified in the patient and her mother. This variant chromosome 9 was present in duplicate in the trisomic line. Since similar variants of 9qh have been found repeatedly in this syndrome, we feel that this association may be a non-random one.

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