A child with intellectual disability and dysmorphism due to complex ring chromosome 6: identification of molecular mechanism with review of literature
Abstract Background Ring chromosome 6 (r(6)) is a rare disorder that mainly occurs as a ‘de novo’ event. Nonetheless, a wide phenotypic spectrum has been reported in r(6) cases, depending on breakpoints, size of involved region, copy number alterations and mosaicism of cells with r(6) and/or monosom...
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2018-10-01
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| Series: | Italian Journal of Pediatrics |
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| Online Access: | http://link.springer.com/article/10.1186/s13052-018-0571-0 |
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doaj-318227c7b19045c7bc1e22ac847973d72020-11-25T02:00:26ZengBMCItalian Journal of Pediatrics1824-72882018-10-014411910.1186/s13052-018-0571-0A child with intellectual disability and dysmorphism due to complex ring chromosome 6: identification of molecular mechanism with review of literatureFrenny Sheth0Thomas Liehr1Viraj Shah2Hillary Shah3Stuti Tewari4Dhaval Solanki5Sunil Trivedi6Jayesh Sheth7FRIGE’s Institute of Human Genetics, FRIGE HouseUniversity Clinic Jena, Institute of Human GeneticsFRIGE’s Institute of Human Genetics, FRIGE HouseFRIGE’s Institute of Human Genetics, FRIGE HouseFRIGE’s Institute of Human Genetics, FRIGE HouseMantra Child Neurology & Epilepsy HospitalFRIGE’s Institute of Human Genetics, FRIGE HouseFRIGE’s Institute of Human Genetics, FRIGE HouseAbstract Background Ring chromosome 6 (r(6)) is a rare disorder that mainly occurs as a ‘de novo’ event. Nonetheless, a wide phenotypic spectrum has been reported in r(6) cases, depending on breakpoints, size of involved region, copy number alterations and mosaicism of cells with r(6) and/or monosomy 6 due to loss of r(6). Case presentation An 11-year-old male was referred with developmental delay, intellectual disability and microcephaly. Physical examination revealed additionally short stature and multiple facial dysmorphisms. Banding cytogenetic studies revealed a karyotype of mos 46,XY,r(6)(p25.3q27)[54]/45,XY,-6[13]/46,XY,r(6)(::p25.3→q27::p25.3→q27::)[13]/46,XY[6]/47,XY,r(6)(p25.3q27)×2[2]dn. Additionally, molecular karyotyping and molecular cytogenetics confirmed the breakpoints and characterized a 1.3 Mb contiguous duplication at 6p25.3. Conclusion The present study has accurately identified copy number alterations caused by ring chromosome formation. A review of the literature suggests that hemizygous expression of TBP gene in 6q27~qter, is likely to be the underlying cause of the phenotype. The phenotypic correlation and clinical severity in r(6) cases continue to remain widely diverse in spite of numerous reports of genomic variations.http://link.springer.com/article/10.1186/s13052-018-0571-0Molecular karyotypingMolecular cytogeneticsHaploinsufficiencyRing chromosomeR(6) |
| collection |
DOAJ |
| language |
English |
| format |
Article |
| sources |
DOAJ |
| author |
Frenny Sheth Thomas Liehr Viraj Shah Hillary Shah Stuti Tewari Dhaval Solanki Sunil Trivedi Jayesh Sheth |
| spellingShingle |
Frenny Sheth Thomas Liehr Viraj Shah Hillary Shah Stuti Tewari Dhaval Solanki Sunil Trivedi Jayesh Sheth A child with intellectual disability and dysmorphism due to complex ring chromosome 6: identification of molecular mechanism with review of literature Italian Journal of Pediatrics Molecular karyotyping Molecular cytogenetics Haploinsufficiency Ring chromosome R(6) |
| author_facet |
Frenny Sheth Thomas Liehr Viraj Shah Hillary Shah Stuti Tewari Dhaval Solanki Sunil Trivedi Jayesh Sheth |
| author_sort |
Frenny Sheth |
| title |
A child with intellectual disability and dysmorphism due to complex ring chromosome 6: identification of molecular mechanism with review of literature |
| title_short |
A child with intellectual disability and dysmorphism due to complex ring chromosome 6: identification of molecular mechanism with review of literature |
| title_full |
A child with intellectual disability and dysmorphism due to complex ring chromosome 6: identification of molecular mechanism with review of literature |
| title_fullStr |
A child with intellectual disability and dysmorphism due to complex ring chromosome 6: identification of molecular mechanism with review of literature |
| title_full_unstemmed |
A child with intellectual disability and dysmorphism due to complex ring chromosome 6: identification of molecular mechanism with review of literature |
| title_sort |
child with intellectual disability and dysmorphism due to complex ring chromosome 6: identification of molecular mechanism with review of literature |
| publisher |
BMC |
| series |
Italian Journal of Pediatrics |
| issn |
1824-7288 |
| publishDate |
2018-10-01 |
| description |
Abstract Background Ring chromosome 6 (r(6)) is a rare disorder that mainly occurs as a ‘de novo’ event. Nonetheless, a wide phenotypic spectrum has been reported in r(6) cases, depending on breakpoints, size of involved region, copy number alterations and mosaicism of cells with r(6) and/or monosomy 6 due to loss of r(6). Case presentation An 11-year-old male was referred with developmental delay, intellectual disability and microcephaly. Physical examination revealed additionally short stature and multiple facial dysmorphisms. Banding cytogenetic studies revealed a karyotype of mos 46,XY,r(6)(p25.3q27)[54]/45,XY,-6[13]/46,XY,r(6)(::p25.3→q27::p25.3→q27::)[13]/46,XY[6]/47,XY,r(6)(p25.3q27)×2[2]dn. Additionally, molecular karyotyping and molecular cytogenetics confirmed the breakpoints and characterized a 1.3 Mb contiguous duplication at 6p25.3. Conclusion The present study has accurately identified copy number alterations caused by ring chromosome formation. A review of the literature suggests that hemizygous expression of TBP gene in 6q27~qter, is likely to be the underlying cause of the phenotype. The phenotypic correlation and clinical severity in r(6) cases continue to remain widely diverse in spite of numerous reports of genomic variations. |
| topic |
Molecular karyotyping Molecular cytogenetics Haploinsufficiency Ring chromosome R(6) |
| url |
http://link.springer.com/article/10.1186/s13052-018-0571-0 |
| work_keys_str_mv |
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