A child with mosaicism for deletion (14)(q11.2q13).
Indian J Hum Genet
;
2012 Jan; 18(1): 130-133
Artículo
en Inglés
| 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.
Texto completo:
Disponible
Índice:
IMSEAR (Asia Sudoriental)
Asunto principal:
Cromosomas Humanos Par 14
/
Femenino
/
Humanos
/
Anoftalmos
/
Deleción Cromosómica
/
Trastornos de los Cromosomas
/
Lactante
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Microcefalia
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Mosaicismo
Idioma:
Inglés
Revista:
Indian J Hum Genet
Año:
2012
Tipo del documento:
Artículo
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