Summary
De novo translocation of an important portion of the long arm of the Y chromosome to the short arm of No. 15 was observed in a mentally defective boy exhibiting several abnormal features: cleft palate, contracted fingers, synostosis of the 4th and 5th metatarsal bones, narrow iliac wings. Endocrinological studies suggest extreme hypogonadism.
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References
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Pfeiffer, R.A., Bier, L., Majewski, F. et al. De novo translocation t(Yq−; 15p+) in a malformed boy. Hum Genet 19, 349–352 (1973). https://doi.org/10.1007/BF00278418
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DOI: https://doi.org/10.1007/BF00278418