Publication: Normal phenotype with maternal isodisomy in a female with two isochromosomes: i(2p) and i(2q)
Normal phenotype with maternal isodisomy in a female with two isochromosomes: i(2p) and i(2q)
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Bernasconi, F., Karagüzel, A., Celep, F., Keser, I., Lüleci, G., Dutly, F., & Schinzel, A. A. (1996). Normal phenotype with maternal isodisomy in a female with two isochromosomes: i(2p) and i(2q). American Journal of Human Genetics, 59, 1114–1118. https://europepmc.org/article/PMC/1914849
Abstract
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Abstract
A 36-year-old normal healthy female was karyotyped because all of her five pregnancies had terminated in spontaneous abortions during the first 3 mo. Cytogenetic investigation disclosed a female karyotype with isochromosomes of 2p and 2q replacing the two normal chromosomes 2. Her husband and both of her parents had normal karyotypes. Molecular studies revealed maternal only inheritance for chromosome 2 markers. Reduction to homozygosity of all informative markers indicated that the isochromosomes derived from a single maternal chromo
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- Bernasconi, Fabiana
- Dutly, Fabrizio
- Schinzel, Albert A
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Bernasconi, F., Karagüzel, A., Celep, F., Keser, I., Lüleci, G., Dutly, F., & Schinzel, A. A. (1996). Normal phenotype with maternal isodisomy in a female with two isochromosomes: i(2p) and i(2q). American Journal of Human Genetics, 59, 1114–1118. https://europepmc.org/article/PMC/1914849
