A child with mosaicism for deletion (14)(q11.2q13).
Indian J Hum Genet
;
2012 Jan; 18(1): 130-133
Article
in English
| IMSEAR
| ID: sea-139461
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.
Full text:
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Index:
IMSEAR (South-East Asia)
Main subject:
Chromosomes, Human, Pair 14
/
Female
/
Humans
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Anophthalmos
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Chromosome Deletion
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Chromosome Disorders
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Infant
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Microcephaly
/
Mosaicism
Language:
English
Journal:
Indian J Hum Genet
Year:
2012
Type:
Article
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