title: A child with mosaicism for deletion (14)(q11.2q13).
abstract: In 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.
authors: Human Genetics Unit, University of Colombo, Sri Lanka.
authors: Thilini H
authors: TH
authors: Gamage
authors: Imaya U H
authors: IU
authors: Godapitiya
authors: Shakila
authors: S
authors: Nanayakkara
authors: Rohan W
authors: RW
authors: Jayasekara
authors: Vajira H W
authors: VH
authors: Dissanayake