4q34.1-q35.2 deletion in a boy with phenotype resembling 22q11.2 deletion syndrome
Само за регистроване кориснике
2011
Аутори
Cuturilo, GoranMenten, Bjorn
Krstić, Aleksandar
Drakulić, Danijela
Jovanović, Ida
Parezanović, Vojislav
Stevanović, Milena
Чланак у часопису (Објављена верзија)
Метаподаци
Приказ свих података о документуАпстракт
Small terminal or interstitial deletions involving bands 4q34 and 4q35 have been described in several patients with a relatively mild phenotype such as mild to moderate intellectual disability and minor dysmorphic features. We present a boy born from unrelated parents with a de novo 4q34.1-q35.2 deletion and clinical features resembling 22q11.2 deletion syndrome. To the best of our knowledge, this is the first reported patient with 4q34-q35 deletion and phenotype resembling 22q11.2 deletion syndrome without fifth finger anomalies as a specific feature of 4q- syndrome. G-banding karyotyping disclosed the deletion, which was further delineated by microarray comparative genomic hybridization. Fluorescence in situ hybridization and multiplex ligation-dependent probe amplification analyses did not reveal rearrangements of 22q11.2 region. MLPA confirmed the deletion within the 4q35.2 region. Conclusion: Given the considerable clinical overlaps between the 22q11.2 deletion syndrome and clinic...al manifestation of the patient described in this study, we propose that region 4q34.1-q35.2 should be considered as another region associated with phenotype resembling 22q11.2 deletion syndrome. We also propose that distal 4q deletions should be considered in the evaluation of patients with phenotypic manifestations resembling 22q11.2 deletion syndrome in whom no 22q11.2 micro-deletion was detected, even in the absence of distinctive fifth finger anomalies. Additionally, we underline the importance of applying array CGH that enables simultaneous genome-wide detection and delineation of copy number changes (e. g., deletions and duplications).
Кључне речи:
MLPA / Array CGH / 4q34.1-q35.2 deletion / 22q11.2 deletion syndromeИзвор:
European Journal of Pediatrics, 2011, 170, 11, 1465-1470Издавач:
- Springer, New York
Финансирање / пројекти:
- Изучавање регулације експресије и функције хуманих SOX гена (RS-MESTD-MPN2006-2010-143028)
- Проучавање сигналних путева и епигенетичких механизама укључених у контролу експресије хуманих SOX гена: даље расветљавање њихове улоге у одређивању судбине и диференцијацији ћелија (RS-MESTD-Basic Research (BR or ON)-173051)
DOI: 10.1007/s00431-011-1533-3
ISSN: 0340-6199
PubMed: 21833498
WoS: 000298655800017
Scopus: 2-s2.0-82655173964
Институција/група
Institut za molekularnu genetiku i genetičko inženjerstvoTY - JOUR AU - Cuturilo, Goran AU - Menten, Bjorn AU - Krstić, Aleksandar AU - Drakulić, Danijela AU - Jovanović, Ida AU - Parezanović, Vojislav AU - Stevanović, Milena PY - 2011 UR - https://imagine.imgge.bg.ac.rs/handle/123456789/494 AB - Small terminal or interstitial deletions involving bands 4q34 and 4q35 have been described in several patients with a relatively mild phenotype such as mild to moderate intellectual disability and minor dysmorphic features. We present a boy born from unrelated parents with a de novo 4q34.1-q35.2 deletion and clinical features resembling 22q11.2 deletion syndrome. To the best of our knowledge, this is the first reported patient with 4q34-q35 deletion and phenotype resembling 22q11.2 deletion syndrome without fifth finger anomalies as a specific feature of 4q- syndrome. G-banding karyotyping disclosed the deletion, which was further delineated by microarray comparative genomic hybridization. Fluorescence in situ hybridization and multiplex ligation-dependent probe amplification analyses did not reveal rearrangements of 22q11.2 region. MLPA confirmed the deletion within the 4q35.2 region. Conclusion: Given the considerable clinical overlaps between the 22q11.2 deletion syndrome and clinical manifestation of the patient described in this study, we propose that region 4q34.1-q35.2 should be considered as another region associated with phenotype resembling 22q11.2 deletion syndrome. We also propose that distal 4q deletions should be considered in the evaluation of patients with phenotypic manifestations resembling 22q11.2 deletion syndrome in whom no 22q11.2 micro-deletion was detected, even in the absence of distinctive fifth finger anomalies. Additionally, we underline the importance of applying array CGH that enables simultaneous genome-wide detection and delineation of copy number changes (e. g., deletions and duplications). PB - Springer, New York T2 - European Journal of Pediatrics T1 - 4q34.1-q35.2 deletion in a boy with phenotype resembling 22q11.2 deletion syndrome EP - 1470 IS - 11 SP - 1465 VL - 170 DO - 10.1007/s00431-011-1533-3 ER -
@article{ author = "Cuturilo, Goran and Menten, Bjorn and Krstić, Aleksandar and Drakulić, Danijela and Jovanović, Ida and Parezanović, Vojislav and Stevanović, Milena", year = "2011", abstract = "Small terminal or interstitial deletions involving bands 4q34 and 4q35 have been described in several patients with a relatively mild phenotype such as mild to moderate intellectual disability and minor dysmorphic features. We present a boy born from unrelated parents with a de novo 4q34.1-q35.2 deletion and clinical features resembling 22q11.2 deletion syndrome. To the best of our knowledge, this is the first reported patient with 4q34-q35 deletion and phenotype resembling 22q11.2 deletion syndrome without fifth finger anomalies as a specific feature of 4q- syndrome. G-banding karyotyping disclosed the deletion, which was further delineated by microarray comparative genomic hybridization. Fluorescence in situ hybridization and multiplex ligation-dependent probe amplification analyses did not reveal rearrangements of 22q11.2 region. MLPA confirmed the deletion within the 4q35.2 region. Conclusion: Given the considerable clinical overlaps between the 22q11.2 deletion syndrome and clinical manifestation of the patient described in this study, we propose that region 4q34.1-q35.2 should be considered as another region associated with phenotype resembling 22q11.2 deletion syndrome. We also propose that distal 4q deletions should be considered in the evaluation of patients with phenotypic manifestations resembling 22q11.2 deletion syndrome in whom no 22q11.2 micro-deletion was detected, even in the absence of distinctive fifth finger anomalies. Additionally, we underline the importance of applying array CGH that enables simultaneous genome-wide detection and delineation of copy number changes (e. g., deletions and duplications).", publisher = "Springer, New York", journal = "European Journal of Pediatrics", title = "4q34.1-q35.2 deletion in a boy with phenotype resembling 22q11.2 deletion syndrome", pages = "1470-1465", number = "11", volume = "170", doi = "10.1007/s00431-011-1533-3" }
Cuturilo, G., Menten, B., Krstić, A., Drakulić, D., Jovanović, I., Parezanović, V.,& Stevanović, M.. (2011). 4q34.1-q35.2 deletion in a boy with phenotype resembling 22q11.2 deletion syndrome. in European Journal of Pediatrics Springer, New York., 170(11), 1465-1470. https://doi.org/10.1007/s00431-011-1533-3
Cuturilo G, Menten B, Krstić A, Drakulić D, Jovanović I, Parezanović V, Stevanović M. 4q34.1-q35.2 deletion in a boy with phenotype resembling 22q11.2 deletion syndrome. in European Journal of Pediatrics. 2011;170(11):1465-1470. doi:10.1007/s00431-011-1533-3 .
Cuturilo, Goran, Menten, Bjorn, Krstić, Aleksandar, Drakulić, Danijela, Jovanović, Ida, Parezanović, Vojislav, Stevanović, Milena, "4q34.1-q35.2 deletion in a boy with phenotype resembling 22q11.2 deletion syndrome" in European Journal of Pediatrics, 170, no. 11 (2011):1465-1470, https://doi.org/10.1007/s00431-011-1533-3 . .