Korean J Clin Pathol.
1997 Aug;17(4):676-680.
A Case of 9p-Syndrome due to a Balanced Maternal Translocation t(9;16) (p22;p13.2)
Abstract
- The deletion 9p syndrome is a well characterized syndrome with about one hundred cases having been reported. Most patients have dysmorphic facial features, cardiac anomalies, and mental retardation. We report on a female infant with micrognathia, corneal opacity, cleft palace, cardiac anomaly, left polycystic kidney, and deletion 9p. Chromosome analysis and fluorescence in situ hybridization (FISH) showed her to have a derived chromosome 9 inherited from a maternal t(9;16) (p22;p13.2) by adjacent I segregation There are few reports of this particular chromosome rearrangement. We review deletion Sp syndrome.
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