ASSOCIATION OF FAMILIAL DUANE ANOMALY AND UROGENITAL ABNORMALITIES WITH A BISATELLITED MARKER DERIVED FROM CHROMOSOME-22

We report a spectrum of defects that were found in an 18-year-old girl who presented for investigation of primary amenorrhea. The patient wa s found to have Duane anomaly, left renal agenesis, absent uterus, bil ateral sensorineural deafness, and bilateral preauricular skin tags an d sinuses. Investigation of her family showed that her brother also ha d Duane anomaly, right renal agenesis, sensorineural deafness, and pre auricular skin tags and that their father had preauricular skin tags. Cytogenetic analysis, including in situ hybridisation of peripheral bl ood lymphocytes, demonstrated a supernumerary bisatellited marker chro mosome derived from the region of chromosome 22pter-q11 in the affecte d individuals. Our findings indicate that a gene or genes located in t he region of chromosome 22pter-q11 may be associated with the Duane an omaly and the development of the urogenital tract. (C) 1993 Wiley-Liss , Inc.