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We report a spectrum of defects that were found in an 18-year-old girl who presented for investigation of primary amenorrhea. The patient was found to have Duane anomaly, left renal agenesis, absent uterus, bilateral sensorineural deafness, and bilateral preauricular skin tags and sinuses. Investigation of her family showed that her brother also had Duane anomaly, right renal agenesis, sensorineural deafness, and preauricular skin tags and that their father had preauricular skin tags. Cytogenetic analysis, including in situ hybridisation of peripheral blood lymphocytes, demonstrated a supernumerary bisatellited marker chromosome derived from the region of chromosome 22pter-q11 in the affected individuals. Our findings indicate that a gene or genes located in the region of chromosome 22pter-q11 may be associated with the Duane anomaly and the development of the urogenital tract.

Original publication




Journal article


Am J Med Genet

Publication Date





925 - 930


Adolescent, Adult, Chromosome Aberrations, Chromosome Banding, Chromosome Disorders, Chromosomes, Human, Pair 22, DNA, Satellite, Diagnosis, Differential, Duane Retraction Syndrome, Ear, External, Family, Female, Genetic Markers, Humans, Karyotyping, Lymphocytes, Male, Mesoderm, Middle Aged, Pedigree