| CASE REPORT |
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| Year : 2012 | Volume
: 18
| Issue : 1 | Page : 130-133 |
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A child with mosaicism for deletion (14)(q11.2q13)
Thilini H Gamage1, Imaya U.H. Godapitiya2, Shakila Nanayakkara3, Rohan W Jayasekara1, Vajira H.W. Dissanayake4
1 Human Genetics Unit, University of Colombo, Sri Lanka
2 Asiri Centre for Genomic and Regenerative Medicine, Asiri Surgical Hospital, Colombo, Sri Lanka
3 Neonatal Unit, Castle Street Hospital for Women, Colombo 08, Sri Lanka
4 Human Genetics Unit, University of Colombo; Asiri Centre for Genomic and Regenerative Medicine, Asiri Surgical Hospital, Colombo, Sri Lanka
Correspondence Address:
Vajira H.W. Dissanayake
Human Genetics Unit, University of Colombo, Kynsey Road, Colombo 08
Sri Lanka
 Source of Support: None, Conflict of Interest: None  | 3 |
DOI: 10.4103/0971-6866.96684
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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. |
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