Indian Journal of Human Genetics
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CASE REPORT
Year : 2006  |  Volume : 12  |  Issue : 3  |  Page : 146-147

TRISOMY 18 in a 50-year-old female


Smt. Motibai Thackersey Institute of Research in the Field of Mental Retardation run by “The Research Society for the Care, Treatment and Training of children In Need of Special Care’’ Sewri Hill, Sewri Road, Mumbai - 400 033, India

Correspondence Address:
B Bhanumathi
Smt. Motibai Thackersey Institute of Research in the Field of Mental Retardation run by “The Research Society for the Care, Treatment and Training of children In Need of Special Care” Sewri Hill, Sewri Road, Mumbai - 400 033
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/0971-6866.29860

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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.


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