De novo isochromosome 18p in a female dysmorphic child

Smitha, R. and Harshavardhan Gawde, M. and Hyderi, Abbas and Savitha, M. R. and Patel, Zareen M. and Krishnamurthy, Balasundaram and Ramachandra, N. B. (2006) De novo isochromosome 18p in a female dysmorphic child. Journal of Applied Genetics, 47 (4). pp. 397-401. ISSN 2190-3883

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Isochromosome 18p results in tetrasomy 18p. Most of the i(18p) cases reported so far in the literature are sporadic due tode novo formation, while familial and mosaic cases are infrequent. It is a rare chromosomal abnormality, occurring once in every 140 000 livebirths, affecting males and females equally. In the present investigation, we report ade novo i(18p) in a female dysmorphic child. The small metacentric marker chromosome was confirmed as i(18p) in the proband by cytogenetic and FISH analysis 47,XX + i(18p). Cytogenetic investigations in the family members revealed normal chromosome numbers, indicating the case as ade novo event of i(1 8p) formation. It could be due to the somewhat advanced maternal age (32 years) and/or expression of recessive genes in the proband, who is the progeny of consanguineous marriage, which could have led to misdivision and nondisjunction of chromosome 18 in meiosis I, followed by failure in the chromatid separation of 18p in meiosis II and by inverted duplication.

Item Type: Article
Subjects: B Life Science > Zoology
Divisions: Department of > Zoology
Depositing User: LA manjunath user
Date Deposited: 30 Aug 2019 06:54
Last Modified: 11 Oct 2019 05:49

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