A case of microphthalmos with cyst and partial trisomy 22.
A 13-day-old girl was referred for evaluation of a right orbital mass. Ophthalmic examinations revealed microphthalmia with cyst in the right eye and microphthalmia in the left eye. She had lowset ears, auricular fistula, micrognathia, and muscular hypotonia. Chromosomal analysis using fluorescence in-situ hybridization (FISH) showed partial trisomy 22. To our knowledge, microphthalmos with cyst associated with partial trisomy 22 has not been described previously in the English literature. Repeated aspiration resulted in a decrease in size of the cyst.
Kodama
T
T
Department of Ophthalmology, Shimane Medical University, Japan.
Shibuya
Y
Y
Setogawa
T
T
Hasegawa
Y
Y
Yamaguchi
S
S
Hirayama
Y
Y
D002892:Chromosomes, Human, Pair 22 / Q000235:genetics*; D003560:Cysts / Q000175:diagnosis / Q000235:genetics*; D015342:DNA Probes; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007231:Infant, Newborn; D007621:Karyotyping; D008279:Magnetic Resonance Imaging; D008850:Microphthalmos / Q000175:diagnosis / Q000235:genetics*; D009916:Orbital Diseases / Q000175:diagnosis / Q000235:genetics*; D014314:Trisomy
D015342:DNA Probes