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De novo isochromosome 18p in a female dysmorphic child

100%

Ramegowda S., Gawde H. M., Hyderi A., Savitha M. R., Patel Z. M., Krishnamurthy B., Ramachandra N. B.

Journal of Applied Genetics

2006

tom 47

nr 4

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.

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A monoculm form of winter rye [Secale cereale L.] selected in an inbred generation

84%

Kubicka H.

Genetica Polonica

1992

tom 33

nr 4

Dziedziczenie cech wiechowatości kwiatostanów lucerny mieszańcowej (Medicago x varia T. Martyn)

67%

Bodzon Z.

Biuletyn Instytutu Hodowli i Aklimatyzacji Roślin

2013

nr 267

Ograniczanie wyników

1 Biuletyn Instytutu Hodowli i Aklimatyzacji Roślin

1 Genetica Polonica

1 Journal of Applied Genetics

1 Bodzon Z.

1 Gawde H. M.

1 Hyderi A.

1 Krishnamurthy B.

1 Kubicka H.

1 Patel Z. M.

1 Ramachandra N. B.

1 Ramegowda S.

1 Savitha M. R.

1 2013

1 2006

1 1992

Wyniki wyszukiwania

De novo isochromosome 18p in a female dysmorphic child

A monoculm form of winter rye [Secale cereale L.] selected in an inbred generation

Dziedziczenie cech wiechowatości kwiatostanów lucerny mieszańcowej (Medicago x varia T. Martyn)