Clinically abnormal case with paternally derived partial trisomy 8p23.3 to 8p12 including maternal isodisomy of 8p23.3: a case report
<p>Abstract</p> <p>Background</p> <p>Because of low copy repeats (LCRs) and common inversion polymorphisms, the human chromosome 8p is prone to a number of recurrent rearrangements. Each of these rearrangements is associated with several phenotypic features. We report o...
| Main Authors: | , , , , , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
BMC
2009-06-01
|
| Series: | Molecular Cytogenetics |
| Online Access: | http://www.molecularcytogenetics.org/content/2/1/14 |
| _version_ | 1818833270724362240 |
|---|---|
| author | Thieme Heike von Eggeling Ferdinand Mrasek Kristin Alehan Dursun Utine Eda Weise Anja Aktas Dilek Tuncbilek Ergul Liehr Thomas |
| author_facet | Thieme Heike von Eggeling Ferdinand Mrasek Kristin Alehan Dursun Utine Eda Weise Anja Aktas Dilek Tuncbilek Ergul Liehr Thomas |
| author_sort | Thieme Heike |
| collection | DOAJ |
| description | <p>Abstract</p> <p>Background</p> <p>Because of low copy repeats (LCRs) and common inversion polymorphisms, the human chromosome 8p is prone to a number of recurrent rearrangements. Each of these rearrangements is associated with several phenotypic features. We report on a patient with various clinical malformations and developmental delay in connection with an inverted duplication event, involving chromosome 8p.</p> <p>Methods</p> <p>Chromosome analysis, multicolor banding analysis (MCB), extensive fluorescence in situ hybridization (FISH) analysis and microsatellite analysis were performed.</p> <p>Results</p> <p>The karyotype was characterized in detail by multicolor banding (MCB), subtelomeric and centromere-near probes as 46,XY,dup(8)(pter->p23.3::p12->p23.3::p23.3->qter). Additionally, microsatellite analysis revealed the paternal origin of the duplication and gave hints for a mitotic recombination involving about 6 MB in 8p23.3.</p> <p>Conclusion</p> <p>A comprehensive analysis of the derivative chromosome 8 suggested a previously unreported mechanism of formation, which included an early mitotic aberration leading to maternal isodisomy, followed by an inverted duplication of the 8p12p23.3 region.</p> |
| first_indexed | 2024-12-19T02:16:16Z |
| format | Article |
| id | doaj.art-791b192dd14c4a61a256dbb83b1eb866 |
| institution | Directory Open Access Journal |
| issn | 1755-8166 |
| language | English |
| last_indexed | 2024-12-19T02:16:16Z |
| publishDate | 2009-06-01 |
| publisher | BMC |
| record_format | Article |
| series | Molecular Cytogenetics |
| spelling | doaj.art-791b192dd14c4a61a256dbb83b1eb8662022-12-21T20:40:23ZengBMCMolecular Cytogenetics1755-81662009-06-01211410.1186/1755-8166-2-14Clinically abnormal case with paternally derived partial trisomy 8p23.3 to 8p12 including maternal isodisomy of 8p23.3: a case reportThieme Heikevon Eggeling FerdinandMrasek KristinAlehan DursunUtine EdaWeise AnjaAktas DilekTuncbilek ErgulLiehr Thomas<p>Abstract</p> <p>Background</p> <p>Because of low copy repeats (LCRs) and common inversion polymorphisms, the human chromosome 8p is prone to a number of recurrent rearrangements. Each of these rearrangements is associated with several phenotypic features. We report on a patient with various clinical malformations and developmental delay in connection with an inverted duplication event, involving chromosome 8p.</p> <p>Methods</p> <p>Chromosome analysis, multicolor banding analysis (MCB), extensive fluorescence in situ hybridization (FISH) analysis and microsatellite analysis were performed.</p> <p>Results</p> <p>The karyotype was characterized in detail by multicolor banding (MCB), subtelomeric and centromere-near probes as 46,XY,dup(8)(pter->p23.3::p12->p23.3::p23.3->qter). Additionally, microsatellite analysis revealed the paternal origin of the duplication and gave hints for a mitotic recombination involving about 6 MB in 8p23.3.</p> <p>Conclusion</p> <p>A comprehensive analysis of the derivative chromosome 8 suggested a previously unreported mechanism of formation, which included an early mitotic aberration leading to maternal isodisomy, followed by an inverted duplication of the 8p12p23.3 region.</p>http://www.molecularcytogenetics.org/content/2/1/14 |
| spellingShingle | Thieme Heike von Eggeling Ferdinand Mrasek Kristin Alehan Dursun Utine Eda Weise Anja Aktas Dilek Tuncbilek Ergul Liehr Thomas Clinically abnormal case with paternally derived partial trisomy 8p23.3 to 8p12 including maternal isodisomy of 8p23.3: a case report Molecular Cytogenetics |
| title | Clinically abnormal case with paternally derived partial trisomy 8p23.3 to 8p12 including maternal isodisomy of 8p23.3: a case report |
| title_full | Clinically abnormal case with paternally derived partial trisomy 8p23.3 to 8p12 including maternal isodisomy of 8p23.3: a case report |
| title_fullStr | Clinically abnormal case with paternally derived partial trisomy 8p23.3 to 8p12 including maternal isodisomy of 8p23.3: a case report |
| title_full_unstemmed | Clinically abnormal case with paternally derived partial trisomy 8p23.3 to 8p12 including maternal isodisomy of 8p23.3: a case report |
| title_short | Clinically abnormal case with paternally derived partial trisomy 8p23.3 to 8p12 including maternal isodisomy of 8p23.3: a case report |
| title_sort | clinically abnormal case with paternally derived partial trisomy 8p23 3 to 8p12 including maternal isodisomy of 8p23 3 a case report |
| url | http://www.molecularcytogenetics.org/content/2/1/14 |
| work_keys_str_mv | AT thiemeheike clinicallyabnormalcasewithpaternallyderivedpartialtrisomy8p233to8p12includingmaternalisodisomyof8p233acasereport AT voneggelingferdinand clinicallyabnormalcasewithpaternallyderivedpartialtrisomy8p233to8p12includingmaternalisodisomyof8p233acasereport AT mrasekkristin clinicallyabnormalcasewithpaternallyderivedpartialtrisomy8p233to8p12includingmaternalisodisomyof8p233acasereport AT alehandursun clinicallyabnormalcasewithpaternallyderivedpartialtrisomy8p233to8p12includingmaternalisodisomyof8p233acasereport AT utineeda clinicallyabnormalcasewithpaternallyderivedpartialtrisomy8p233to8p12includingmaternalisodisomyof8p233acasereport AT weiseanja clinicallyabnormalcasewithpaternallyderivedpartialtrisomy8p233to8p12includingmaternalisodisomyof8p233acasereport AT aktasdilek clinicallyabnormalcasewithpaternallyderivedpartialtrisomy8p233to8p12includingmaternalisodisomyof8p233acasereport AT tuncbilekergul clinicallyabnormalcasewithpaternallyderivedpartialtrisomy8p233to8p12includingmaternalisodisomyof8p233acasereport AT liehrthomas clinicallyabnormalcasewithpaternallyderivedpartialtrisomy8p233to8p12includingmaternalisodisomyof8p233acasereport |