Cookies on this website
We use cookies to ensure that we give you the best experience on our website. If you click 'Continue' we'll assume that you are happy to receive all cookies and you won't see this message again. Click 'Find out more' for information on how to change your cookie settings.

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

DOI

10.1002/ajmg.1320470623

Type

Journal article

Journal

Am J Med Genet

Publication Date

01/11/1993

Volume

47

Pages

925 - 930

Keywords

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