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Digitale Medien

Molecular detection of a Yp/18 translocation in a 45,X holoprosencephalic male (1988)

Münke, Maximilian ; Page, David C. ; Brown, Laura G. ; [weitere]

Springer

Human genetics 〈Berlin〉 80 (1988), S. 219-223

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Details

ISSN: 1432-1203

Quelle: Springer Online Journal Archives 1860-2000

Thema: Biologie , Medizin

Notizen: 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.

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1007/BF01790089

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