[Unusual ocular anomaly in 9 p trisomy: retinal depigmentation].
A new case of 9 p trisomy is reported in a 7-month-girl having typical morphological abnormalities and a mental retardation. During the examination, unusual ocular abnormalities were observed: pigmented linear dots of the mid peripheral retinal. Strabismus and hypertelorism were present. However, the other ocular features, blepharophimosis, correctopia, ptosis, microphthalmia, iris coloboma, unusual position of the eyelashes were not observed.
D002906:Chromosomes, Human, 6-12 and X; D005260:Female; D006801:Humans; D006972:Hypertelorism / Q000150:complications; D007223:Infant; D007621:Karyotyping; D012160:Retina / Q000002:abnormalities*; D012168:Retinal Pigments; D013285:Strabismus / Q000150:complications; D013577:Syndrome; D014314:Trisomy
D012168:Retinal Pigments
Anomalie oculaire inhabituelle de la trisomie 9 p: dépigmentation rétinienne.