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Number of results
2006 | 47 | 4 | 397-401

Article title

De novo isochromosome 18p in a female dysmorphic child

Title variants

Languages of publication

EN

Abstracts

EN
Isochromosome 18p results in tetrasomy 18p. Most of the i(18p) cases reported so far in the literature are sporadic due to de 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 a de 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 a de novo event of i(18p) 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.

Discipline

Year

Volume

47

Issue

4

Pages

397-401

Physical description

Contributors

author
author
author
author
author

References

Document Type

ARTICLE

Publication order reference

N.B. Ramachandra, Human Genetics Laboratory, Department of Studies in Zoology, University of Mysore, Manasagangothri, Mysore 570 006, India

Identifiers

YADDA identifier

bwmeta1.element.element-from-psjc-08cbb324-73f8-368f-9b69-569b4820d352
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