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Molecular detection of a translocation (Y;11)(q11.2;q24) in a 45,X male with signs of Jacobsen syndrome

✍ Scribed by J. O. Van Hemel; B. Eussen; E. Wesby-van Swaay; B. A. Oostra

Publisher: Springer
Year: 1992
Tongue: English
Weight: 964 KB
Volume: 88
Category: Article
ISSN: 0340-6717
DOI: 10.1007/bf02265294

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## Abstract We report on a 13‐year‐old female with short stature, minimal axillary and pubic hair, no breast development, absence of uterus and ovaries, with the following karyotype on lymphocyte cultures: 46,X,t(Y;4)(q11.2;p16)[40]/45,X,der(4)t(Y;4)(q11.2;p16)[10]. Loss of the small derivative Y c