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Indian Journal of Human Genetics
Medknow Publications on behalf of Indian Society of Human Genetics
ISSN: 0971-6866
EISSN: 0971-6866
Vol. 14, No. 3, 2008, pp. 103-105
Bioline Code: hg08023
Full paper language: English
Document type: Case Report
Document available free of charge

Indian Journal of Human Genetics, Vol. 14, No. 3, 2008, pp. 103-105

 en Bloom's syndrome in a 12-year-old Iranian girl
Tayebi, Naeimeh & Khodaei, Hossain


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.

Chromosomal instability, conjunctivitis, flat malar region, microcephaly, short stature, small mandible, thin and long face, telangectasia

© Copyright 2008 Indian Journal of Human Genetics.
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