A child with mosaicism for deletion (14)(q11.2q13)
摘要
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.
引用本文（GB/T 7714）
Vajira H. W. Dissanayake, Thilini H. Gamage, Shakila Nanayakkara, 等. A child with mosaicism for deletion (14)(q11.2q13)[J]. Indian journal of human genetics, 2012.
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