Novel Phenotype in Unbalanced 7;9 Translocation with Critical Incidental Finding
This case discusses a now 13-year-old boy who underwent chromosome analysis and fluorescence in situ hybridization (FISH) for subtelomeric rearrangements due to dysmorphic features at birth. This testing revealed a diagnosis of an unbalanced 7;9 translocation resulting in monosomy for 7q34-qter and...
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| Format: | Article |
| Language: | English |
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Wiley
2022-01-01
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| Series: | Case Reports in Genetics |
| Online Access: | http://dx.doi.org/10.1155/2022/7510079 |
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| author | Julie Fischer Luis Rohena |
| author_facet | Julie Fischer Luis Rohena |
| author_sort | Julie Fischer |
| collection | DOAJ |
| description | This case discusses a now 13-year-old boy who underwent chromosome analysis and fluorescence in situ hybridization (FISH) for subtelomeric rearrangements due to dysmorphic features at birth. This testing revealed a diagnosis of an unbalanced 7;9 translocation resulting in monosomy for 7q34-qter and trisomy for 9pter-p21, which resulted in a very complex medical course. At the age of 12, due to persistent complex neurodevelopmental concerns, the patient was referred by neurology for whole-exome sequencing. This testing revealed an incidental pathogenic heterozygous KCNH2 deletion, which is associated with long QT-syndrome type II. Prior to this point, the patient had no symptoms of long QT syndrome and had multiple EKGs with normal QT intervals. However, due to this association, the patient underwent Holter monitoring, which revealed clinical evidence of long-QT syndrome type II. Preventative treatment was then initiated and the patient remains asymptomatic. This case expands on the phenotype of this patient’s unbalanced 7;9 translocation as well as highlights the importance of secondary findings in genetic testing. |
| format | Article |
| id | doaj-art-bb825d06ebd343cc9b642fdab655a281 |
| institution | Kabale University |
| issn | 2090-6552 |
| language | English |
| publishDate | 2022-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Genetics |
| spelling | doaj-art-bb825d06ebd343cc9b642fdab655a2812025-02-03T01:08:45ZengWileyCase Reports in Genetics2090-65522022-01-01202210.1155/2022/7510079Novel Phenotype in Unbalanced 7;9 Translocation with Critical Incidental FindingJulie Fischer0Luis Rohena1Department of PediatricsDivision of Medical GeneticsThis case discusses a now 13-year-old boy who underwent chromosome analysis and fluorescence in situ hybridization (FISH) for subtelomeric rearrangements due to dysmorphic features at birth. This testing revealed a diagnosis of an unbalanced 7;9 translocation resulting in monosomy for 7q34-qter and trisomy for 9pter-p21, which resulted in a very complex medical course. At the age of 12, due to persistent complex neurodevelopmental concerns, the patient was referred by neurology for whole-exome sequencing. This testing revealed an incidental pathogenic heterozygous KCNH2 deletion, which is associated with long QT-syndrome type II. Prior to this point, the patient had no symptoms of long QT syndrome and had multiple EKGs with normal QT intervals. However, due to this association, the patient underwent Holter monitoring, which revealed clinical evidence of long-QT syndrome type II. Preventative treatment was then initiated and the patient remains asymptomatic. This case expands on the phenotype of this patient’s unbalanced 7;9 translocation as well as highlights the importance of secondary findings in genetic testing.http://dx.doi.org/10.1155/2022/7510079 |
| spellingShingle | Julie Fischer Luis Rohena Novel Phenotype in Unbalanced 7;9 Translocation with Critical Incidental Finding Case Reports in Genetics |
| title | Novel Phenotype in Unbalanced 7;9 Translocation with Critical Incidental Finding |
| title_full | Novel Phenotype in Unbalanced 7;9 Translocation with Critical Incidental Finding |
| title_fullStr | Novel Phenotype in Unbalanced 7;9 Translocation with Critical Incidental Finding |
| title_full_unstemmed | Novel Phenotype in Unbalanced 7;9 Translocation with Critical Incidental Finding |
| title_short | Novel Phenotype in Unbalanced 7;9 Translocation with Critical Incidental Finding |
| title_sort | novel phenotype in unbalanced 7 9 translocation with critical incidental finding |
| url | http://dx.doi.org/10.1155/2022/7510079 |
| work_keys_str_mv | AT juliefischer novelphenotypeinunbalanced79translocationwithcriticalincidentalfinding AT luisrohena novelphenotypeinunbalanced79translocationwithcriticalincidentalfinding |