Human Genetics

, Volume 80, Issue 3, pp 219–223

Molecular detection of a Yp/18 translocation in a 45,X holoprosencephalic male

  • Maximilian Münke
  • David C. Page
  • Laura G. Brown
  • B. Anthony Armson
  • Elaine H. Zackai
  • Michael T. Mennuti
  • Beverly S. Emanuel
Original Investigations

DOI: 10.1007/BF01790089

Cite this article as:
Münke, M., Page, D.C., Brown, L.G. et al. Hum Genet (1988) 80: 219. doi:10.1007/BF01790089

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.

Copyright information

© Springer-Verlag 1988

Authors and Affiliations

  • Maximilian Münke
    • 1
  • David C. Page
    • 2
    • 3
  • Laura G. Brown
    • 2
    • 3
  • B. Anthony Armson
    • 4
  • Elaine H. Zackai
    • 1
  • Michael T. Mennuti
    • 4
  • Beverly S. Emanuel
    • 1
  1. 1.Division of Clinical GeneticsThe Children's Hospital of PhiladelphiaPhiladelphiaUSA
  2. 2.Whitehead Institute for Biomedical ResearchMassachusetts Institute of TechnologyCambridgeUSA
  3. 3.Department of BiologyMassachusetts Institute of TechnologyCambridgeUSA
  4. 4.Department of Obstetrics and GynecologyHospital of the University of PennsylvaniaPhiladelphiaUSA
  5. 5.Department of Human GeneticsUniversity of Pennsylvania School of MedicinePhiladelphiaUSA