Trisomy 6p22→6pter due to familial t(6;1
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G. Rosi; G. Venti; G. Migliorini Bruschelli; E. Donti; V. Bocchini; R. Armellini
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Article
📅
1979
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Springer
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English
⚖ 713 KB
A newborn with a 46,XY,der(13),t(6;13)(p22;q34 or 33)pat karyotype, trisomic for the 6p22 leads to 6pter segment and, perhaps, monosomic for the 13q telomere, is reported. The balanced translocation is familial and was also encountered in the sister and paternal grandmother. The infant's phenotype w