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Indian J Hum Genet. 2012 Jan;18(1):130-3. doi: 10.4103/0971-6866.96684.

A child with mosaicism for deletion (14)(q11.2q13).

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  • 1Human Genetics Unit, University of Colombo, Sri Lanka.

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.

KEYWORDS:

Anophthalmia; deletion (14)(q11.2q13); microcephaly; mosaicism

PMID:
22754240
[PubMed]
PMCID:
PMC3385171
Free PMC Article
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