Familial chromosome translocation t(3;18)(p21;p11).
G. Buchinger, Angelika Wettstein, H Metze
Abstract
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G. Buchinger, Angelika Wettstein, H Metze
Abstract
Open-access reader
A familial translocation t(3;18)(p21;p11) was observed in a newborn male. He had multiple malformations resulting from partial trisomy 3 and partial monosomy 18. The mother, maternal uncle, and maternal grandmother were found to be balanced translocation carriers. A daughter of the maternal uncle with similar malformations probably had the same unbalanced karyotype as the proband.
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A familial translocation t(3;18)(p21;p11) was observed in a newborn male. He had multiple malformations resulting from partial trisomy 3 and partial monosomy 18. The mother, maternal uncle, and maternal grandmother were found to be balanced translocation carriers. A daughter of the maternal uncle with similar malformations probably had the same unbalanced karyotype as the proband.
Key concepts: Chromosomal translocation, Proband, Monosomy, Karyotype, Partial Trisomy, Genetics, Daughter, Trisomy