A Novel 2.3 Mb Microduplication of 9q34.3 Inserted into 19q13.4 in a Patient with Learning Disabilities
Insertional translocations in which a duplicated region of one chromosome is inserted into another chromosome are very rare. We report a 16.5-year-old girl with a terminal duplication at 9q34.3 of paternal origin inserted into 19q13.4. Chromosomal analysis revealed the karyotype 46,XX,der(19)ins(19;...
Saved in:
| Main Authors: | , , , , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Wiley
2012-01-01
|
| Series: | Case Reports in Pediatrics |
| Online Access: | http://dx.doi.org/10.1155/2012/459602 |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
| _version_ | 1832565071571582976 |
|---|---|
| author | Shalinder Singh Fern Ashton Renate Marquis-Nicholson Jennifer M. Love Chuan-Ching Lan Salim Aftimos Alice M. George Donald R. Love |
| author_facet | Shalinder Singh Fern Ashton Renate Marquis-Nicholson Jennifer M. Love Chuan-Ching Lan Salim Aftimos Alice M. George Donald R. Love |
| author_sort | Shalinder Singh |
| collection | DOAJ |
| description | Insertional translocations in which a duplicated region of one chromosome is inserted into another chromosome are very rare. We report a 16.5-year-old girl with a terminal duplication at 9q34.3 of paternal origin inserted into 19q13.4. Chromosomal analysis revealed the karyotype 46,XX,der(19)ins(19;9)(q13.4;q34.3q34.3)pat. Cytogenetic microarray analysis (CMA) identified a ~2.3Mb duplication of 9q, which was confirmed by Fluorescence in situ hybridisation (FISH). The duplication at 9q34.3 is the smallest among the cases reported so far. The proband exhibits similar clinical features to those previously reported cases with larger duplication events. |
| format | Article |
| id | doaj-art-0503ccace2ab4cbaae677206259cb918 |
| institution | Kabale University |
| issn | 2090-6803 2090-6811 |
| language | English |
| publishDate | 2012-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Pediatrics |
| spelling | doaj-art-0503ccace2ab4cbaae677206259cb9182025-02-03T01:09:23ZengWileyCase Reports in Pediatrics2090-68032090-68112012-01-01201210.1155/2012/459602459602A Novel 2.3 Mb Microduplication of 9q34.3 Inserted into 19q13.4 in a Patient with Learning DisabilitiesShalinder Singh0Fern Ashton1Renate Marquis-Nicholson2Jennifer M. Love3Chuan-Ching Lan4Salim Aftimos5Alice M. George6Donald R. Love7Diagnostic Genetics, LabPlus, Auckland City Hospital, P.O. Box 110031, Auckland 1148, New ZealandDiagnostic Genetics, LabPlus, Auckland City Hospital, P.O. Box 110031, Auckland 1148, New ZealandDiagnostic Genetics, LabPlus, Auckland City Hospital, P.O. Box 110031, Auckland 1148, New ZealandDiagnostic Genetics, LabPlus, Auckland City Hospital, P.O. Box 110031, Auckland 1148, New ZealandDiagnostic Genetics, LabPlus, Auckland City Hospital, P.O. Box 110031, Auckland 1148, New ZealandGenetic Health Service New Zealand-Northern Hub, Auckland City Hospital, Private Bag 92024, Auckland 1142, New ZealandDiagnostic Genetics, LabPlus, Auckland City Hospital, P.O. Box 110031, Auckland 1148, New ZealandDiagnostic Genetics, LabPlus, Auckland City Hospital, P.O. Box 110031, Auckland 1148, New ZealandInsertional translocations in which a duplicated region of one chromosome is inserted into another chromosome are very rare. We report a 16.5-year-old girl with a terminal duplication at 9q34.3 of paternal origin inserted into 19q13.4. Chromosomal analysis revealed the karyotype 46,XX,der(19)ins(19;9)(q13.4;q34.3q34.3)pat. Cytogenetic microarray analysis (CMA) identified a ~2.3Mb duplication of 9q, which was confirmed by Fluorescence in situ hybridisation (FISH). The duplication at 9q34.3 is the smallest among the cases reported so far. The proband exhibits similar clinical features to those previously reported cases with larger duplication events.http://dx.doi.org/10.1155/2012/459602 |
| spellingShingle | Shalinder Singh Fern Ashton Renate Marquis-Nicholson Jennifer M. Love Chuan-Ching Lan Salim Aftimos Alice M. George Donald R. Love A Novel 2.3 Mb Microduplication of 9q34.3 Inserted into 19q13.4 in a Patient with Learning Disabilities Case Reports in Pediatrics |
| title | A Novel 2.3 Mb Microduplication of 9q34.3 Inserted into 19q13.4 in a Patient with Learning Disabilities |
| title_full | A Novel 2.3 Mb Microduplication of 9q34.3 Inserted into 19q13.4 in a Patient with Learning Disabilities |
| title_fullStr | A Novel 2.3 Mb Microduplication of 9q34.3 Inserted into 19q13.4 in a Patient with Learning Disabilities |
| title_full_unstemmed | A Novel 2.3 Mb Microduplication of 9q34.3 Inserted into 19q13.4 in a Patient with Learning Disabilities |
| title_short | A Novel 2.3 Mb Microduplication of 9q34.3 Inserted into 19q13.4 in a Patient with Learning Disabilities |
| title_sort | novel 2 3 mb microduplication of 9q34 3 inserted into 19q13 4 in a patient with learning disabilities |
| url | http://dx.doi.org/10.1155/2012/459602 |
| work_keys_str_mv | AT shalindersingh anovel23mbmicroduplicationof9q343insertedinto19q134inapatientwithlearningdisabilities AT fernashton anovel23mbmicroduplicationof9q343insertedinto19q134inapatientwithlearningdisabilities AT renatemarquisnicholson anovel23mbmicroduplicationof9q343insertedinto19q134inapatientwithlearningdisabilities AT jennifermlove anovel23mbmicroduplicationof9q343insertedinto19q134inapatientwithlearningdisabilities AT chuanchinglan anovel23mbmicroduplicationof9q343insertedinto19q134inapatientwithlearningdisabilities AT salimaftimos anovel23mbmicroduplicationof9q343insertedinto19q134inapatientwithlearningdisabilities AT alicemgeorge anovel23mbmicroduplicationof9q343insertedinto19q134inapatientwithlearningdisabilities AT donaldrlove anovel23mbmicroduplicationof9q343insertedinto19q134inapatientwithlearningdisabilities AT shalindersingh novel23mbmicroduplicationof9q343insertedinto19q134inapatientwithlearningdisabilities AT fernashton novel23mbmicroduplicationof9q343insertedinto19q134inapatientwithlearningdisabilities AT renatemarquisnicholson novel23mbmicroduplicationof9q343insertedinto19q134inapatientwithlearningdisabilities AT jennifermlove novel23mbmicroduplicationof9q343insertedinto19q134inapatientwithlearningdisabilities AT chuanchinglan novel23mbmicroduplicationof9q343insertedinto19q134inapatientwithlearningdisabilities AT salimaftimos novel23mbmicroduplicationof9q343insertedinto19q134inapatientwithlearningdisabilities AT alicemgeorge novel23mbmicroduplicationof9q343insertedinto19q134inapatientwithlearningdisabilities AT donaldrlove novel23mbmicroduplicationof9q343insertedinto19q134inapatientwithlearningdisabilities |