FISH delineation of multiple chromosome abnormalities in a mentally retarded patient with severe chronic disabilities

Abstract

We report a severely mentally retarded 17-year old girl with congenital abnormalities, seizure disorder, cerebral palsy, hydrocephalus, and numerous constitutional chromosome abnormalities.

She was born at term via emergency C-section to healthy, nonconsanguinous parents. There were no reported teratogen exposures. Chromosome studies revealed several abnormalities which could not be fully defined. Hydrocephalus was noted at two months of age and corrected with a VP shunt. Maternal and sibling chromosomes were normal. Paternal chromosomes studies were not done.

The prometaphase G-banded karyotype of the patient shows several abnormalities involving chromosomes 1, 6, 7, 8, and 10. FISH with various paints and probes have defined an apparently reciprocal translocation between chromosomes 1q and 8q, translocation of portions of 6q onto 7q and 10q, and insertion of a portion of 10q into 1q.