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

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 no...

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Bibliographic Details
Published in:Human genetics 1988-11, Vol.80 (3), p.219-223
Main Authors: MÜNKE, M, PAGE, D. C, BROWN, L. G, ARMSON, B. A, ZACKAI, E. H, MENNUTI, M. T, EMANUEL, B. S
Format: Article
Language:English
Subjects:
Abnormalities, Multiple - genetics
Biological and medical sciences
Brain - abnormalities
Chromosome aberrations
Chromosome Banding
Chromosomes, Human, Pair 18
DNA Probes
Humans
Infant, Newborn
Karyotyping
Male
Medical genetics
Medical sciences
Noonan Syndrome - diagnosis
Noonan Syndrome - genetics
Prenatal Diagnosis
Translocation, Genetic
Y Chromosome
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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.
ISSN:0340-6717
1432-1203
DOI:10.1007/bf01790089