Terminal long arm deletion of chromosome 7 and retino-choroidal coloboma.
This communication describes a 7-year-old male with growth and psychomotor retardation and dysmorphic features who has a small terminal deletion of the long arm of chromosome 7. The proband, in addition, had bilateral coloboma of the retina and choroidea which was not reported previously in patients with this rare chromosomal deletion syndrome. Our finding and available data in the literature on the association of the coloboma of the eyes with various chromosomal abnormalities points out the importance of karyotype studies in such patients, especially in the presence of concomitant extraocular findings.
D000328:Adult; D002478:Cells, Cultured; D002648:Child; D002829:Choroid / Q000002:abnormalities*; D002872:Chromosome Deletion; D002906:Chromosomes, Human, 6-12 and X; D003103:Coloboma / Q000235:genetics*; D005260:Female; D005347:Fibroblasts / Q000166:cytology; D006801:Humans; D007621:Karyotyping; D008214:Lymphocytes / Q000166:cytology; D008297:Male; D012160:Retina / Q000002:abnormalities*