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De novo duplication of 7pter→p21.2 and deletion of 9pter→p23.5: clinical and cytogenetic diagnosis
Author(s) -
Back E.,
Jung C.,
Zeitler S.,
Schempp W.
Publication year - 1997
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1997.tb02416.x
Subject(s) - derivative chromosome , chromosomal translocation , fluorescence in situ hybridization , gene duplication , chromosome , biology , genetics , microbiology and biotechnology , cytogenetics , karyotype , gene
We report on a male patient with a de novo derivative chromosome 9. From clinical and conventional cytogenetic data, it was assumed that the derivative chromosome might be caused by a translocation between the short arms of chromosomes 7 and 9: der(9)t(7;9)(p21.2;p23.5). Fluorescence in situ hybridization with a chromosome 7‐specific and a chromosome 9‐specific paint confirmed this supposition. The phenotype of the patient described is compared to cases in the literature.