Bloom's syndrome in a 12-year-old Iranian girl.
Indian J Hum Genet
;
2008 Sept; 14(3): 103-105
Article
Dans Anglais
| IMSEAR
| ID: sea-138860
ABSTRACT
BACKGROUND:
Bloom's syndrome, an autosomal recessive inherited disorder, belongs to the group of chromosomal breakage syndromes. The clinical diagnosis of BS is confirmed cytogenetically. Its frequency in the general population is unknown but it is common in eastern European Ashkenazi Jews. CASE REPORT A 12-year-old girl was referred to us because of short stature. She was the second child of the first cousin marriage. She had a slender body frame, short stature, and microcephaly. Her face was long and narrow with prominent nose, and malar and mandibular hypoplasia. The spots of hyper and hypo pigmentation were observed in the trunk and limbs. Telangectasia spots were observed in some areas of the trunk. Additionally, generalized hirsutism was present in the whole body. Cytogenetic findings revealed an abnormality in the structural chromosome.CONCLUSION:
This is the first BS case that has been reported in Iranian female population.
Texte intégral:
Disponible
Indice:
IMSEAR (Asie du Sud-Est)
langue:
Anglais
Texte intégral:
Indian J Hum Genet
Année:
2008
Type:
Article
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