Normal psychomotor development in a child with mosaic trisomy and pericentric inversion of chromosome 9.
- 1 October 1981
- journal article
- research article
- Published by BMJ in Journal of Medical Genetics
- Vol. 18 (5) , 390-392
- https://doi.org/10.1136/jmg.18.5.390
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 were found repeatedly in this syndrome, this association may be a non-random one.Keywords
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