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Pericentric inversion of the Y chromosome and prenatal diagnosis |
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| Authors: | Lawrence R Shapiro Richard O Pettersen Patrick L Wilmot Dorothy Warburton Peter A Benn Lillian Y F Hsu |
| Institution: | Departments of Pediatrics and Parhology, Westchester Country Medical Center and New York Medical College, Valhalla, New York
Genetics Laboratory, Letchworth Village Developmental Center, Thiells, New York Departments of Human Genetics and Development and Pediatrics, College of Physicians and Surgeons, Columbia University, New York Prenatal Diagnosis Laboratory of New York City (Medical and Health Research Association of NYC), U.S.A. |
| Abstract: | Pericentric inversion of the human Y chromosome has been estimated to occur with a frequency of 1–2 per thousand in various populations, and the results of this study, derived from over 12 000 prenatal diagnosis cases, is 1.15 per 1000. In these cases, it was concluded that there was no clinical significance because the fathers and male fetuses had the same pericentric inversion. Chromosome analysis of the father is advisable to determine whether or not the inversion is familial in order to be able to provide genetic counselling. |
| Keywords: | Pericentric inversion Y chromosome Frequency Prenatal diagnosis |