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Prenatal identification of a deleted Y chromosome by cytogenetics and a Y-specific repetitive DNA probe
Authors:C. Disteche  D. Luthy  D. B. Haslam  D. Hoar
Affiliation:(1) Department of Pathology, University of Washington, 98195 Seattle, WA, USA;(2) Department of Obstetrics and Gynecology, Swedish Hospital Medical Center, 98104 Seattle, WA, USA;(3) Molecular Diagnosis Laboratory, Division of Medical Genetics, Alberta Children's Hospital Research Center, ALB T21 5C7 Calgary, Canada
Abstract: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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