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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. 12, No. 3, 2006, pp. 146-147
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Bioline Code: hg06028
Full paper language: English
Document type: Research Article
Document available free of charge
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Indian Journal of Human Genetics, Vol. 12, No. 3, 2006, pp. 146-147
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Case Report-TRISOMY 18 in a 50-year-old female
Bhanumathi B, Goyel NeelamA, Mishra ZA
Abstract
She was brought to our Institute at the age of 31, with speech delay and mental handicap. She was assessed by the multidisciplinary team in the institute to determine the cause of her problems. Clinical evaluation revealed dysmorphic facial features, microbrachycephaly, camptodactyly, clinodactyly, abnormal dermatoglyphics and severe mental handicap. Cardiovascular system examination was normal. Chromosomal analysis revealed a trisomy of Chromosome 18. The phenotype of trisomy 18 and the rarity of prolonged survival in this case are discussed.
Keywords
Mental retardation, Edward syndrome, life span
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© Copyright 2006 Indian Journal of Human Genetics.
Alternative site location: http://www.ijhg.com/
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