Molecular detection of a translocation (Y;11)(q11.2;q24) in a 45,X male with signs of Jacobsen syndrome |
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Authors: | J O Van Hemel B Eussen E Wesby-van Swaay B A Oostra |
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Institution: | (1) Department of Clinical Genetics, Academic Hospital Dijkzigt, Erasmus University, P. O. Box 1738, NL-3000 DR Rotterdam, The Netherlands;(2) Department of Cell Biology and Genetics, Erasmus University, Rotterdam, The Netherlands |
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Abstract: | Summary A 45,X karyotype was found in a boy with dysmorphic features, hypoglycaemia and pancytopenia. DNA analysis showed the presence of the Y-chromosomal DNA sequences SRY, ZFY, DYZ4, DYZ3 and DYS1. Using fluorescent in situ hybridization, we located DYZ4 and DYZ3 on chromosome llqter and concluded that a de novo translocation (Y;11)(q11.2;q24) with a deletion of 11q24qter and a deletion of Yq11.2Yqter were present; Jacobsen syndrome and azoospermia are associated with these deletions. Signs of Jacobsen syndrome were observed in the patient. |
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