Publication:
FISH investigation of 22q11.2 deletion in patients with immunodeficiency and/or cardiac abnormalities

dc.contributor.buuauthorYakut, Tahsin
dc.contributor.buuauthorKılıç, Sara Şebnem
dc.contributor.buuauthorÇil, Ergün
dc.contributor.buuauthorYapıcı, Esra
dc.contributor.buuauthorEgeli, Ünal
dc.contributor.departmentTıp Fakültesi
dc.contributor.departmentTıp Fakültesi
dc.contributor.departmentTıp Fakültesi
dc.contributor.departmentTıbbi Genetik Ana Bilim Dalı
dc.contributor.departmentTıbbi Biyoloji Ana Bilim Dalı
dc.contributor.departmentPediatrik İmmünoloji Ana Bilim Dalı
dc.contributor.orcid0000-0001-7904-883X
dc.contributor.orcid0000-0001-8571-2581
dc.contributor.researcheridAAG-9324-2021
dc.contributor.researcheridAAH-1420-2021
dc.contributor.researcheridAAH-3865-2021
dc.contributor.scopusid6602802424
dc.contributor.scopusid34975059200
dc.contributor.scopusid35587943300
dc.contributor.scopusid12797930700
dc.contributor.scopusid55665145000
dc.date.accessioned2021-12-14T06:03:30Z
dc.date.available2021-12-14T06:03:30Z
dc.date.issued2006
dc.description.abstractDiGeorge anomaly/velocardiofacial syndrome (DG/VCFS), called 22q11.2 deletion syndrome in general, is the most common chromosomal deletion syndrome found in humans. Typical facial features, palatal defects, conotruncal abnormalities of the heart, aplasia/hypoplasia of the parathyroid glands and of thymus are characteristics of this syndrome. Deletions of chromosome 22q11.2 (del22q11.2) are the leading causes of DG7VCFS. We report on a systematic search by fluorescence in situ hybridization (FISH) for deletions of chromosomes 22q11.2 in patients with a clinical suspicion or diagnosis of DG/VCFS. Using FISH we studied a series of 43 patients with suspected DG/VCFS. In this study, a total of 43 patients were investigated for the presence of a 22q11.2 deletion over a two-year period. Del22q11.2 was detected in 5 of the 43 patients tested. All patients with deletion had hypocalcemia, 80% had cardiac defects, 40% had facial dysmorphism, 40% had immunodeficiency , and 20% had otolaryngeal abnormalities. Chromosome 22q11.2 deletion is a relatively common condition and is readily diagnosed by FISH. We suggest that FISH analysis of 22q11.2 deletion should be performed in the presence of combined of hypocalcemia and congenital cardiac malformations, with or without any characteristics of the disease. This may facilitate an early diagnosis in such patients.
dc.identifier.citationYakut, T. vd. (2006). ''FISH investigation of 22q11.2 deletion in patients with immunodeficiency and/or cardiac abnormalities''. Pediatric Surgery International, 22(4), 380-383.
dc.identifier.endpage383
dc.identifier.issn0179-0358
dc.identifier.issn1437-9813
dc.identifier.issue4
dc.identifier.pubmed16463032
dc.identifier.scopus2-s2.0-33645412998
dc.identifier.startpage380
dc.identifier.urihttps://link.springer.com/article/10.1007%2Fs00383-006-1641-8
dc.identifier.urihttps://doi.org/10.1007/s00383-006-1641-8
dc.identifier.urihttp://hdl.handle.net/11452/23223
dc.identifier.volume22
dc.identifier.wos000236488000014
dc.indexed.wosSCIE
dc.language.isoen
dc.publisherSpringer
dc.relation.journalPediatric Surgery International
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi
dc.rightsinfo:eu-repo/semantics/closedAccess
dc.subjectPediatrics
dc.subjectSurgery
dc.subjectVCFS
dc.subjectImmunodeficiency
dc.subjectHypocalcemia
dc.subjectFISH (Fluorescent in situ hybridization)
dc.subjectDiGeorge syndrome
dc.subjectChromosome 22q11.2
dc.subjectFeatures
dc.subjectDiagnosis
dc.subjectChromosome-22
dc.subjectFacial syndrome
dc.subjectDigeorge-syndrome
dc.subject.emtreeVelocardiofacial syndrome
dc.subject.emtreePriority journal
dc.subject.emtreeNewborn
dc.subject.emtreeMale
dc.subject.emtreeInfant
dc.subject.emtreeImmune deficiency
dc.subject.emtreeHypoparathyroidism
dc.subject.emtreeHypocalcemia
dc.subject.emtreeHuman
dc.subject.emtreeHigh risk patient
dc.subject.emtreeHeart disease
dc.subject.emtreeFluorescence in situ hybridization
dc.subject.emtreeFemale
dc.subject.emtreeFace dysmorphia
dc.subject.emtreeEarly diagnosis
dc.subject.emtreeDiGeorge syndrome
dc.subject.emtreeCongenital heart malformation
dc.subject.emtreeClinical article
dc.subject.emtreeChromosome deletion
dc.subject.emtreeChromosome 22q
dc.subject.emtreeChild
dc.subject.emtreeArticle
dc.subject.meshProspective studies
dc.subject.meshMale
dc.subject.meshInfant, newborn
dc.subject.meshInfant
dc.subject.meshIn situ hybridization, fluorescence
dc.subject.meshImmune system diseases
dc.subject.meshHumans
dc.subject.meshHeart diseases
dc.subject.meshGene deletion
dc.subject.meshFemale
dc.subject.meshDiGeorge syndrome
dc.subject.meshDiagnosis, differential
dc.subject.meshChromosomes, human, pair 22
dc.subject.meshChild, preschool
dc.subject.scopusDigeorge Syndrome; 22Q11 Deletion Syndrome; Chromosome Loss
dc.subject.wosPediatrics
dc.subject.wosSurgery
dc.titleFISH investigation of 22q11.2 deletion in patients with immunodeficiency and/or cardiac abnormalities
dc.typeArticle
dc.wos.quartileQ4
dspace.entity.typePublication
local.contributor.departmentTıp Fakültesi/Tıbbi Genetik Ana Bilim Dalı
local.contributor.departmentTıp Fakültesi/Pediatrik İmmünoloji Ana Bilim Dalı
local.contributor.departmentTıp Fakültesi/Tıbbi Biyoloji Ana Bilim Dalı
local.indexed.atScopus
local.indexed.atWOS

Files

License bundle

Now showing 1 - 1 of 1
Placeholder
Name:
license.txt
Size:
1.71 KB
Format:
Item-specific license agreed upon to submission
Description: