TRISOMY 18 in a 50-year-old female

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,...

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Bibliographic Details
Published in:Indian journal of human genetics 2006-09, Vol.12 (3), p.146-147
Main Authors: Bhanumathi, B, Goyel, Neelam, Mishra, Z
Format: Article
Language:English
Subjects:
Case studies
Chromosomes
Development and progression
Diagnosis
Edwards' syndrome
Genetic aspects
Genetic disorders
Genotype & phenotype
Medical diagnosis
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Summary: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. [PUBLICATION ABSTRACT]
ISSN:0971-6866
1998-362X
DOI:10.4103/0971-6866.29860