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Prenatal identification of a deleted Y chromosome by cytogenetics and a Y-specific repetitive DNA probe

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Summary

A very small sex chromosome was identified prenatally as a Y chromosome by using molecular hybridization in conjunction with conventional cytogenetics techniques. The combination of R-banding, Q-banding, distamycin-DAPI staining suggested that the chromosome might be a de novo deletion of the Y chromosome as the father's Y chromosome was normal. Restriction enzyme analysis of amniotic fluid cell DNA using a Y chromosome repetitive probe confirmed the origin of this chromosome.

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Disteche, C., Luthy, D., Haslam, D.B. et al. Prenatal identification of a deleted Y chromosome by cytogenetics and a Y-specific repetitive DNA probe. Hum Genet 67, 222–224 (1984). https://doi.org/10.1007/BF00273007

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  • DOI: https://doi.org/10.1007/BF00273007

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