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Page 1
Mortality in Patients with 22q11.2 Rearrangements.
Cilio Arroyuelo M, Tenorio-Castano J, García-Moya LF, Parra A, Cazalla M, Gallego N, Miranda L, Mori MÁ, García-Gueretta L, Labrandero C, Mansilla E, Rikeros E, García-Santiago F, Vallcorba I, Arias P, Silván C, Deiros Bronte L, Nevado J, Lapunzina P. Cilio Arroyuelo M, et al. Genes (Basel). 2024 Aug 30;15(9):1146. doi: 10.3390/genes15091146. Genes (Basel). 2024. PMID: 39336737 Free PMC article.
The 22q11.2 region is highly susceptible to genomic rearrangements leading to multiple genomic disorders, including 22q11.2 microdeletion syndrome (22q11.2 DS) (MIM# 188400), 22q11.2 microduplication syndrome (MIM# 608363), supernumerary der(22)t(11;22) syndrome (also known as …
The 22q11.2 region is highly susceptible to genomic rearrangements leading to multiple genomic disorders, including 22q11.2 microdeletion sy …
Prenatal diagnosis of Emanuel syndrome - case series and review of the literature.
Piwowarczyk P, Massalska D, Obodzińska I, Gawlik Zawiślak S, Bijok J, Kucińska-Chahwan A, Roszkowski T. Piwowarczyk P, et al. J Obstet Gynaecol. 2022 Oct;42(7):2615-2620. doi: 10.1080/01443615.2022.2114331. Epub 2022 Sep 1. J Obstet Gynaecol. 2022. PMID: 36048922 Review.
We present three new cases and review of the literature on the prenatal diagnosis of Emanuel syndrome (ES). Twenty-one foetuses have been analysed. In all three cases diagnosed in our department, posterior fossa abnormalities were seen and in one hypoplastic right v …
We present three new cases and review of the literature on the prenatal diagnosis of Emanuel syndrome (ES). Twenty-one foetuse …
Emanuel syndrome and congenital diaphragmatic hernia: A systematic review.
Adams LE, Chapman A, Cormack CL, Campbell K, Ebanks AH, Annibale DJ, Hollinger LE. Adams LE, et al. J Pediatr Surg. 2022 Sep;57(9):24-28. doi: 10.1016/j.jpedsurg.2021.11.005. Epub 2021 Nov 20. J Pediatr Surg. 2022. PMID: 34865829
BACKGROUND: Emanuel Syndrome (ES), a rare chromosomal disorder caused by a supernumerary chromosome 22 derivative (der(22)t(11;22)), was identified in a fetus with congenital diaphragmatic hernia (CDH) at our fetal center. ...
BACKGROUND: Emanuel Syndrome (ES), a rare chromosomal disorder caused by a supernumerary chromosome 22 derivative (der(22)t(11 …
Prevalence of Emanuel syndrome: theoretical frequency and surveillance result.
Ohye T, Inagaki H, Kato T, Tsutsumi M, Kurahashi H. Ohye T, et al. Pediatr Int. 2014 Aug;56(4):462-6. doi: 10.1111/ped.12437. Pediatr Int. 2014. PMID: 24980921 Review.
The observed number of Emanuel syndrome cases was 36 and that of t(11;22) balanced translocation carriers, 40. ...Further efforts should be made to increase the awareness of Emanuel syndrome to ensure a better quality of life for affected patients and …
The observed number of Emanuel syndrome cases was 36 and that of t(11;22) balanced translocation carriers, 40. ...Further effo …
Ocular manifestations of Emanuel syndrome.
Saffren BD, Capasso JE, Zanolli M, Levin AV. Saffren BD, et al. Am J Med Genet A. 2018 Sep;176(9):1964-1967. doi: 10.1002/ajmg.a.40361. Epub 2018 Sep 4. Am J Med Genet A. 2018. PMID: 30178914
Emanuel syndrome is caused by a supernumerary der(22)t(11;22) and typically manifests with intellectual disability and craniofacial dysmorphism. ...Two candidate genes were identified as possible etiologies for the ocular pathologies in our patient: a MFRP duplicati …
Emanuel syndrome is caused by a supernumerary der(22)t(11;22) and typically manifests with intellectual disability and craniof …
Neuroimaging findings in Emanuel Syndrome.
Xie CL, Cardenas AM. Xie CL, et al. J Radiol Case Rep. 2019 Oct 31;13(10):1-5. doi: 10.3941/jrcr.v13i10.3625. eCollection 2019 Oct. J Radiol Case Rep. 2019. PMID: 32184920 Free PMC article.
Emanuel syndrome is a rare inherited chromosomal abnormality caused by an unbalanced translocation of chromosomes 11 and 22. ...Recognition of findings leading to earlier diagnosis of Emanuel syndrome may improve outcomes and quality of life for patien …
Emanuel syndrome is a rare inherited chromosomal abnormality caused by an unbalanced translocation of chromosomes 11 and 22. . …
Oral and dental findings in emanuel syndrome.
Puranik CP, Katechia B. Puranik CP, et al. Int J Paediatr Dent. 2019 Sep;29(5):677-682. doi: 10.1111/ipd.12502. Epub 2019 Apr 25. Int J Paediatr Dent. 2019. PMID: 30980693
Emanuel Syndrome (ES; OMIM# 609029) is a rare disorder caused by an unbalanced chromosomal translocation [supernumerary der(22)t(11,22)] and characterized by multiple congenital abnormalities. ...
Emanuel Syndrome (ES; OMIM# 609029) is a rare disorder caused by an unbalanced chromosomal translocation [supernumerary der(22 …
Prenatal cfDNA Screening for Emanuel Syndrome and Other Unbalanced Products of Conception in Carriers of the Recurrent Balanced Translocation t(11;22): One Laboratory's Retrospective Experience.
Soster E, Dyr B, Caldwell S, Sussman A, Magharyous H. Soster E, et al. Genes (Basel). 2023 Oct 10;14(10):1924. doi: 10.3390/genes14101924. Genes (Basel). 2023. PMID: 37895273 Free PMC article.
Prenatal cell-free DNA screening (cfDNA) can identify fetal chromosome abnormalities beyond common trisomies. Emanuel syndrome (ES), caused by an unbalanced translocation between chromosomes 11 and 22, has lacked a reliable prenatal screening option for families wit …
Prenatal cell-free DNA screening (cfDNA) can identify fetal chromosome abnormalities beyond common trisomies. Emanuel syndrome …
Molecular mechanisms and diagnosis of chromosome 22q11.2 rearrangements.
Emanuel BS. Emanuel BS. Dev Disabil Res Rev. 2008;14(1):11-8. doi: 10.1002/ddrr.3. Dev Disabil Res Rev. 2008. PMID: 18636632 Free PMC article. Review.
These include the translocations and deletions associated with DiGeorge and velocardiofacial syndrome and the translocations that give rise to the recurrent t(11;22) supernumerary der(22) syndrome (Emanuel syndrome). The rearrangement breakpoints on 22q clust …
These include the translocations and deletions associated with DiGeorge and velocardiofacial syndrome and the translocations that give rise …
Associated syndromes in patients with Pierre Robin Sequence.
Karempelis P, Hagen M, Morrell N, Roby BB. Karempelis P, et al. Int J Pediatr Otorhinolaryngol. 2020 Apr;131:109842. doi: 10.1016/j.ijporl.2019.109842. Epub 2019 Dec 30. Int J Pediatr Otorhinolaryngol. 2020. PMID: 31927149
Additionally, 3 patients had central hypoventilation syndrome, 3 patients had Duane syndrome, 2 patients had Cornelia de Lange syndrome, 2 patients had Emanuel syndrome, 2 patients had Gordon syndrome, 2 patients had Mobius syndrome, 2 patients had Nager syndrome. . …
Additionally, 3 patients had central hypoventilation syndrome, 3 patients had Duane syndrome, 2 patients had Cornelia de Lange syndrome, 2 p …
33 results