Indian Journal of Human Genetics
Medknow Publications on behalf of Indian Society of Human Genetics
Vol. 18, No. 1, 2012, pp. 130-133
Bioline Code: hg12027
Full paper language: English
Document type: Case Report
Document available free of charge
Indian Journal of Human Genetics, Vol. 18, No. 1, 2012, pp. 130-133
© Copyright 2012 Indian Journal of Human Genetics.
A child with mosaicism for deletion (14)(q11.2q13)|
Gamage, Thilini H.; Godapitiya, Imaya U.H..; Nanayakkara, Shakila; Jayasekara, Rohan W. & Dissanayake, Vajira H.W..
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)  /46,XX . 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.
Anophthalmia, deletion (14)(q11.2q13), microcephaly, mosaicism
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