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Familial transmission of a translocation Y/14

✍ Scribed by C. H. C. M. Buys; G. J. P. A. Anders; J. M. M. Borkent-Ypma; J. A. M. Blenkers-Platter; A. Y. Hoek-van der Veen

Publisher: Springer
Year: 1979
Tongue: English
Weight: 509 KB
Volume: 53
Category: Article
ISSN: 0340-6717
DOI: 10.1007/bf00289465

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✦ Synopsis

A translocation of heterochromatic material, brightly fluorescent after actinomycin D-DAPI staining, to the short arm of chromosome 14 was prenatally detected during cytogenetic examination of cells obtained by amniocentesis on the indication of advanced maternal age. Besides this abnormal chromosome, 43 autosomes and two X chromosomes were present. Silver staining made clear that an active nucleolus-organizing region was included in the translocation product. Both the intense fluorescence and the size of the translocated extra heterochromatic block were indicative of a Yq origin. Upon cytogenetic investigation of the parents, the mother appeared to carry the same t(Y;14) chromosome. Therefore, we expected a normal girl to be born. This was confirmed after birth.

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