Browsing by Author "Nanayakkara, Shakila"
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Item A child with mosaicism for deletion (14)(q11.2q13).(2012-01) Gamage, Thilini H; Godapitiya, Imaya U H; Nanayakkara, Shakila; Jayasekara, Rohan W; Dissanayake, Vajira H WIn this case report we describe a child with a de novo deletion in the (q11.2q13) region of chromosome 14. The child presented with dysmorphic features - anophthalmia, microcephaly, and growth retardation. Cytogenetic studies showed mosaicism. The karyotype was 46,XX,del(14)(q11.2;q13) [16] /46,XX [9]. We compared the features observed in this child with that of others with the same deletion reported in scientific literature and found that this is the first report of a child mosaic for this deletion. It is also the first time it has been reported in association with anophthalmia.