Molecular cytogenetic characterization of two independent karyotypic anomalies in a patient with severe mental retardation and juvenile idiopathic arthritis |
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Authors: | Leybrand Sabine Rossier Eva Barbi Gotthold Cooper David N Kehrer-Sawatzki Hildegard |
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Institution: | (1) Department of Human Genetics, Institute of Human Genetics, University of Ulm, Albert-Einstein-Allee 11, 89081 Ulm, Germany;(2) Institute of Medical Genetics, Cardiff University, Heath Park, Cardiff, UK |
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Abstract: | We report on a patient with severe mental retardation, dysmorphic features as well as juvenile idiopathic arthritis. G-banding
indicated two independent karyotypic anomalies in this patient: an interstitial deletion del(X)(p21p22.3) and a rearrangement
involving chromosomes 1 and 7, which represents a direct insertion, ins(7;1)(q36;p13.2p31.2). Non-random inactivation of the
paternally derived del(X) chromosome was observed in blood lymphocytes and fibroblasts. High resolution analysis of the rearrangement
involving chromosomes 1 and 7 subsequently revealed the additional submicroscopic deletion of at least 5 Mb at the 1p13.2
breakpoint. The deletion occurred on the paternal chromosome and encompasses the PTPN22 gene, already known to be associated with juvenile idiopathic arthritis. Our findings underline the importance of closely
investigating the breakpoint regions of apparently balanced rearrangements in patients with abnormal phenotypes since complex
chromosomal rearrangements (CCRs) may turn out to be unbalanced.
Electronic supplementary material The online version of this article (doi:) contains supplementary material, which is available to authorized users. |
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Keywords: | Complex chromosome rearrangement Xp deletion 1p13 2 deletion Juvenile idiopathic arthritis |
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