A child with mosaicism for deletion (14)(q11.2q13).
Indian J Hum Genet
;
2012 Jan; 18(1): 130-133
Article
Dans Anglais
| 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.
Texte intégral:
Disponible
Indice:
IMSEAR (Asie du Sud-Est)
Sujet Principal:
Chromosomes humains de la paire 14
/
Femelle
/
Humains
/
Anophtalmie
/
Délétion de segment de chromosome
/
Maladies chromosomiques
/
Nourrisson
/
Microcéphalie
/
Mosaïcisme
langue:
Anglais
Texte intégral:
Indian J Hum Genet
Année:
2012
Type:
Article
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