Detection rate of 22q11.2 microdeletion using strict diagnostic criteria
Аутори
Drakulić, DanijelaCuturilo, Goran
Jovanović, Ida
Krstić, Aleksandar
Milivojević, Milena
Stevanović, Milena
Конференцијски прилог (Објављена верзија)
Метаподаци
Приказ свих података о документуАпстракт
Background/Objectives: 22q11.2 microdeletion, detected in
patients with 22q11.2 Deletion Syndrome (22q11.2DS), is the most
common microdeletion syndrome in humans. 22q11.2DS has high
risk for neurodevelopmental disorders and is associated with more than 180 malformations. Many investigations of the 22q11.2
microdeletion applying different recruitment criteria, revealed
detection rate ranging from zero to 34.7%. Here we analyzed the
frequency of 22q11.2 microdeletion among children having at
least two out of five major characteristics of 22q11.2DS: congenital
heart malformations (CHM), facial dysmorphism, immunological
problems, palatal clefts and hypocalcemia.
Methods: Children with clinical characteristics of 22q11.2DS
were analyzed. Fluorescence in situ hybridization and multiplex
ligation-dependent probe amplification analysis were applied for
detection of 22q11.2 microdeletion.
Results: 22q11.2 microdeletion was detected in approximately
40% of children. CHM was foun...d in all patients with 22q11.2
microdeletion. Dysmorphic facial features were present in about
45%, immunological problems in 30%, overt cleft palate in about
4% and hypocalcemia in approximately 60% of patients with
22q11.2 microdeletion.
Conclusion: When at least two major features of 22q11.2DS are
taking into consideration higher detection rate is obtained compared
to one-feature criterion. These criteria could be considered
by centers in low-income countries.
Извор:
European Journal of Human Genetics, 2023, 31, Suppl 1, 240-240Издавач:
- Springer Nature
Финансирање / пројекти:
- 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)
- Министарство науке, технолошког развоја и иновација Републике Србије, институционално финансирање - 200042 (Универзитет у Београду, Институт за молекуларну генетику и генетичко инжењерство) (RS-MESTD-inst-2020-200042)
- Serbian Academy of Sciences and Arts (MIKRONEURO_ no. 01-2021)
Напомена:
- Abstracts from the 55th European Society of Human Genetics (ESHG) Conference: e-Posters
Институција/група
Institut za molekularnu genetiku i genetičko inženjerstvoTY - CONF AU - Drakulić, Danijela AU - Cuturilo, Goran AU - Jovanović, Ida AU - Krstić, Aleksandar AU - Milivojević, Milena AU - Stevanović, Milena PY - 2023 UR - https://imagine.imgge.bg.ac.rs/handle/123456789/2181 AB - Background/Objectives: 22q11.2 microdeletion, detected in patients with 22q11.2 Deletion Syndrome (22q11.2DS), is the most common microdeletion syndrome in humans. 22q11.2DS has high risk for neurodevelopmental disorders and is associated with more than 180 malformations. Many investigations of the 22q11.2 microdeletion applying different recruitment criteria, revealed detection rate ranging from zero to 34.7%. Here we analyzed the frequency of 22q11.2 microdeletion among children having at least two out of five major characteristics of 22q11.2DS: congenital heart malformations (CHM), facial dysmorphism, immunological problems, palatal clefts and hypocalcemia. Methods: Children with clinical characteristics of 22q11.2DS were analyzed. Fluorescence in situ hybridization and multiplex ligation-dependent probe amplification analysis were applied for detection of 22q11.2 microdeletion. Results: 22q11.2 microdeletion was detected in approximately 40% of children. CHM was found in all patients with 22q11.2 microdeletion. Dysmorphic facial features were present in about 45%, immunological problems in 30%, overt cleft palate in about 4% and hypocalcemia in approximately 60% of patients with 22q11.2 microdeletion. Conclusion: When at least two major features of 22q11.2DS are taking into consideration higher detection rate is obtained compared to one-feature criterion. These criteria could be considered by centers in low-income countries. PB - Springer Nature C3 - European Journal of Human Genetics T1 - Detection rate of 22q11.2 microdeletion using strict diagnostic criteria EP - 240 IS - Suppl 1 SP - 240 VL - 31 DO - 10.1038/s41431-023-01339-3 ER -
@conference{ author = "Drakulić, Danijela and Cuturilo, Goran and Jovanović, Ida and Krstić, Aleksandar and Milivojević, Milena and Stevanović, Milena", year = "2023", abstract = "Background/Objectives: 22q11.2 microdeletion, detected in patients with 22q11.2 Deletion Syndrome (22q11.2DS), is the most common microdeletion syndrome in humans. 22q11.2DS has high risk for neurodevelopmental disorders and is associated with more than 180 malformations. Many investigations of the 22q11.2 microdeletion applying different recruitment criteria, revealed detection rate ranging from zero to 34.7%. Here we analyzed the frequency of 22q11.2 microdeletion among children having at least two out of five major characteristics of 22q11.2DS: congenital heart malformations (CHM), facial dysmorphism, immunological problems, palatal clefts and hypocalcemia. Methods: Children with clinical characteristics of 22q11.2DS were analyzed. Fluorescence in situ hybridization and multiplex ligation-dependent probe amplification analysis were applied for detection of 22q11.2 microdeletion. Results: 22q11.2 microdeletion was detected in approximately 40% of children. CHM was found in all patients with 22q11.2 microdeletion. Dysmorphic facial features were present in about 45%, immunological problems in 30%, overt cleft palate in about 4% and hypocalcemia in approximately 60% of patients with 22q11.2 microdeletion. Conclusion: When at least two major features of 22q11.2DS are taking into consideration higher detection rate is obtained compared to one-feature criterion. These criteria could be considered by centers in low-income countries.", publisher = "Springer Nature", journal = "European Journal of Human Genetics", title = "Detection rate of 22q11.2 microdeletion using strict diagnostic criteria", pages = "240-240", number = "Suppl 1", volume = "31", doi = "10.1038/s41431-023-01339-3" }
Drakulić, D., Cuturilo, G., Jovanović, I., Krstić, A., Milivojević, M.,& Stevanović, M.. (2023). Detection rate of 22q11.2 microdeletion using strict diagnostic criteria. in European Journal of Human Genetics Springer Nature., 31(Suppl 1), 240-240. https://doi.org/10.1038/s41431-023-01339-3
Drakulić D, Cuturilo G, Jovanović I, Krstić A, Milivojević M, Stevanović M. Detection rate of 22q11.2 microdeletion using strict diagnostic criteria. in European Journal of Human Genetics. 2023;31(Suppl 1):240-240. doi:10.1038/s41431-023-01339-3 .
Drakulić, Danijela, Cuturilo, Goran, Jovanović, Ida, Krstić, Aleksandar, Milivojević, Milena, Stevanović, Milena, "Detection rate of 22q11.2 microdeletion using strict diagnostic criteria" in European Journal of Human Genetics, 31, no. Suppl 1 (2023):240-240, https://doi.org/10.1038/s41431-023-01339-3 . .