Molecular detection of a Yp/18 translocation in a 45,X holoprosencephalic male |
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| Authors: | Maximilian Münke David C. Page Laura G. Brown B. Anthony Armson Elaine H. Zackai Michael T. Mennuti Beverly S. Emanuel |
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| Affiliation: | (1) Division of Clinical Genetics, The Children's Hospital of Philadelphia, 19104 Philadelphia, PA, USA;(2) Whitehead Institute for Biomedical Research, Massachusetts Institute of Technology, 02142 Cambridge, MA, USA;(3) Department of Biology, Massachusetts Institute of Technology, 02142 Cambridge, MA, USA;(4) Department of Obstetrics and Gynecology, Hospital of the University of Pennsylvania, 19104 Philadelphia, PA, USA;(5) Department of Human Genetics, University of Pennsylvania School of Medicine, 37th and Hamilton Walk, 19104-6072 Philadelphia, PA, USA |
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| Abstract: | Summary Prenatal diagnosis in a fetus with holoprosencephaly showed a 45,X karyotype and a suspected 18p abnormality. At birth, the fetus presented with normal male genitalia. Y chromatin was not cytogenetically detectable by Q-, G-, or G11-banding. Mosaicism for a cell line containing a Y chromosome was not observed in amniocytes, lymphocytes, or skin fibroblasts. Southern blot analysis for 11 different Y-DNA loci demonstrated the presence in the patient's genome of sequences derived from the short arm, centromeric region, and proximal long arm of the Y chromosome (intervals 1–5). The distal long arm of the Y (intervals 6 and 7) was absent. In situ hybridization with the Y-derived probe pDP105 showed silver grains over the short arm of the del(18) chromosome, suggesting a Y/18 translocation with loss of 18p and distal Yq material. |
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