Speech and language abilities of children with the familial form of 22q11.2 deletion syndrome
2016
Аутори
Rakonjac, MarijanaCuturilo, Goran
Stevanović, Milena
Jovanović, Ida
Dobrijević, Ljiljana Jelicic
Mijović, Marija
Drakulić, Danijela
Чланак у часопису (Објављена верзија)
Метаподаци
Приказ свих података о документуАпстракт
The 22q11.2 Deletion Syndrome (22q11.2DS), which encompasses Shprintzen syndrome, DiGeorge and velocardiofacial syndrome, is the most common microdeletion syndrome in humans with an estimated incidence of approximately 1/4000 per live births. After Down syndrome, it is the second most common genetic syndrome associated with congenital heart malformations. The mode of inheritance of the 22q11.2DS is autosomal dominant. In approximately 72-94% of the cases the deletion has occurred de novo, while in 6 to 28% of patients deletion was inherited from a parent. As a part of a multidisciplinary study we examined the speech and language abilities of members of two families with inherited form of 22q11.2DS. The presence of 22q11.2 microdeletion was revealed by fluorescence in situ hybridization (FISH) and/or multiplex ligation-dependent probe amplification (MLPA). In one family we detected 1.5 Mb 22q11.2 microdeletion, while in the other family we found 3Mb microdeletion. Patients from both fam...ilies showed delays in cognitive, socio-emotional, speech and language development. Furthermore, we found considerable variability in the phenotypic characteristics of 22q11.2DS and the degree of speech-language pathology not only between different families with 22q11.2 deletion, but also among members of the same family. In addition, we detected no correlation between the phenotype and the size of 22q11.2 microdeletion.
Кључне речи:
speech and language / size of deletion / mode of inheritance / 22q11.2DSИзвор:
Genetika-Belgrade, 2016, 48, 1, 57-72Издавач:
- Društvo genetičara Srbije, Beograd
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)
- Интердисциплинарна истраживања квалитета вербалне комуникације (RS-MESTD-Basic Research (BR or ON)-178027)
DOI: 10.2298/GENSR1601057R
ISSN: 0534-0012
WoS: 000376744800006
Scopus: 2-s2.0-84971246167
Институција/група
Institut za molekularnu genetiku i genetičko inženjerstvoTY - JOUR AU - Rakonjac, Marijana AU - Cuturilo, Goran AU - Stevanović, Milena AU - Jovanović, Ida AU - Dobrijević, Ljiljana Jelicic AU - Mijović, Marija AU - Drakulić, Danijela PY - 2016 UR - https://imagine.imgge.bg.ac.rs/handle/123456789/968 AB - The 22q11.2 Deletion Syndrome (22q11.2DS), which encompasses Shprintzen syndrome, DiGeorge and velocardiofacial syndrome, is the most common microdeletion syndrome in humans with an estimated incidence of approximately 1/4000 per live births. After Down syndrome, it is the second most common genetic syndrome associated with congenital heart malformations. The mode of inheritance of the 22q11.2DS is autosomal dominant. In approximately 72-94% of the cases the deletion has occurred de novo, while in 6 to 28% of patients deletion was inherited from a parent. As a part of a multidisciplinary study we examined the speech and language abilities of members of two families with inherited form of 22q11.2DS. The presence of 22q11.2 microdeletion was revealed by fluorescence in situ hybridization (FISH) and/or multiplex ligation-dependent probe amplification (MLPA). In one family we detected 1.5 Mb 22q11.2 microdeletion, while in the other family we found 3Mb microdeletion. Patients from both families showed delays in cognitive, socio-emotional, speech and language development. Furthermore, we found considerable variability in the phenotypic characteristics of 22q11.2DS and the degree of speech-language pathology not only between different families with 22q11.2 deletion, but also among members of the same family. In addition, we detected no correlation between the phenotype and the size of 22q11.2 microdeletion. PB - Društvo genetičara Srbije, Beograd T2 - Genetika-Belgrade T1 - Speech and language abilities of children with the familial form of 22q11.2 deletion syndrome EP - 72 IS - 1 SP - 57 VL - 48 DO - 10.2298/GENSR1601057R ER -
@article{ author = "Rakonjac, Marijana and Cuturilo, Goran and Stevanović, Milena and Jovanović, Ida and Dobrijević, Ljiljana Jelicic and Mijović, Marija and Drakulić, Danijela", year = "2016", abstract = "The 22q11.2 Deletion Syndrome (22q11.2DS), which encompasses Shprintzen syndrome, DiGeorge and velocardiofacial syndrome, is the most common microdeletion syndrome in humans with an estimated incidence of approximately 1/4000 per live births. After Down syndrome, it is the second most common genetic syndrome associated with congenital heart malformations. The mode of inheritance of the 22q11.2DS is autosomal dominant. In approximately 72-94% of the cases the deletion has occurred de novo, while in 6 to 28% of patients deletion was inherited from a parent. As a part of a multidisciplinary study we examined the speech and language abilities of members of two families with inherited form of 22q11.2DS. The presence of 22q11.2 microdeletion was revealed by fluorescence in situ hybridization (FISH) and/or multiplex ligation-dependent probe amplification (MLPA). In one family we detected 1.5 Mb 22q11.2 microdeletion, while in the other family we found 3Mb microdeletion. Patients from both families showed delays in cognitive, socio-emotional, speech and language development. Furthermore, we found considerable variability in the phenotypic characteristics of 22q11.2DS and the degree of speech-language pathology not only between different families with 22q11.2 deletion, but also among members of the same family. In addition, we detected no correlation between the phenotype and the size of 22q11.2 microdeletion.", publisher = "Društvo genetičara Srbije, Beograd", journal = "Genetika-Belgrade", title = "Speech and language abilities of children with the familial form of 22q11.2 deletion syndrome", pages = "72-57", number = "1", volume = "48", doi = "10.2298/GENSR1601057R" }
Rakonjac, M., Cuturilo, G., Stevanović, M., Jovanović, I., Dobrijević, L. J., Mijović, M.,& Drakulić, D.. (2016). Speech and language abilities of children with the familial form of 22q11.2 deletion syndrome. in Genetika-Belgrade Društvo genetičara Srbije, Beograd., 48(1), 57-72. https://doi.org/10.2298/GENSR1601057R
Rakonjac M, Cuturilo G, Stevanović M, Jovanović I, Dobrijević LJ, Mijović M, Drakulić D. Speech and language abilities of children with the familial form of 22q11.2 deletion syndrome. in Genetika-Belgrade. 2016;48(1):57-72. doi:10.2298/GENSR1601057R .
Rakonjac, Marijana, Cuturilo, Goran, Stevanović, Milena, Jovanović, Ida, Dobrijević, Ljiljana Jelicic, Mijović, Marija, Drakulić, Danijela, "Speech and language abilities of children with the familial form of 22q11.2 deletion syndrome" in Genetika-Belgrade, 48, no. 1 (2016):57-72, https://doi.org/10.2298/GENSR1601057R . .