Publication: Duplication of segment 1p21 following paternal insertional translocation, ins(6;1)(q25;p13.3p22.1)
Duplication of segment 1p21 following paternal insertional translocation, ins(6;1)(q25;p13.3p22.1)
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Utkus, A., Sorokina, I., Kucinskas, V., Röthlisberger, B., Balmer, D., Brecevic, L., & Schinzel, A. (1999). Duplication of segment 1p21 following paternal insertional translocation, ins(6;1)(q25;p13.3p22.1). Journal of Medical Genetics, 36, 73–76. https://doi.org/10.1136/jmg.36.1.73
Abstract
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Abstract
A moderately mentally retarded 3 year old boy showed minor anomalies including a prominent forehead and flat occiput, exophthalmos, large and prominent ears, high arched palate, umbilical hernia, sacral dimple, and irregular position of the toes. Cardiac sonography disclosed a chorda running through the left ventricle. Cytogenetic investigation of the family showed a balanced insertional translocation of segment 1p13-->p22 into distal 6q in the father which had led, through unbalanced segregation, to duplication of 1p13.3-->p22.1 in t
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- Utkus, Algirdas
- Sorokina, Irina
- Kucinskas, Vaidutis
- Röthlisberger, Benno
- Balmer, Damina
- Brecevic, Lukrecija
- Schinzel, Albert
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Utkus, A., Sorokina, I., Kucinskas, V., Röthlisberger, B., Balmer, D., Brecevic, L., & Schinzel, A. (1999). Duplication of segment 1p21 following paternal insertional translocation, ins(6;1)(q25;p13.3p22.1). Journal of Medical Genetics, 36, 73–76. https://doi.org/10.1136/jmg.36.1.73
