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dc.contributor.authorKalelioglu, Ibrahim Halil
dc.contributor.authorAltunoglu, Umut
dc.contributor.authorKaraman, Birsen
dc.contributor.authorKirgiz, Melike
dc.contributor.authorYuksel, Atil
dc.contributor.authorSarac Sivrikoz, Tugba
dc.contributor.authorBasaran, Seher
dc.contributor.authorHas, Recep
dc.date.accessioned2021-12-10T11:10:59Z
dc.date.available2021-12-10T11:10:59Z
dc.date.issued2021
dc.identifier.citationSarac Sivrikoz T., Basaran S., Has R., Karaman B., Kalelioglu I. H. , Kirgiz M., Altunoglu U., Yuksel A., "Prenatal sonographic and cytogenetic/molecular findings of 22q11.2 microdeletion syndrome in 48 confirmed cases in a single tertiary center.", Archives of gynecology and obstetrics, sa.2, 2021
dc.identifier.issn0932-0067
dc.identifier.otherav_6d353154-8e25-43a2-9f24-1b2d5117c27f
dc.identifier.othervv_1032021
dc.identifier.urihttp://hdl.handle.net/20.500.12627/171378
dc.identifier.urihttps://doi.org/10.1007/s00404-021-06125-4
dc.identifier.urihttps://avesis.istanbul.edu.tr/api/publication/6d353154-8e25-43a2-9f24-1b2d5117c27f/file
dc.description.abstractPurpose We aimed to present the fetal ultrasound, cytogenetic/molecular testing and postmortem or postnatal clinical fndings of cases with 22q11.2DS diagnosed prenatally. Materials and methods A retrospective medical record review of 48 prenatal cases diagnosed with 22q11.2DS were evaluated in our institution. Detailed ultrasound examination was performed on all fetuses. Postmortem and postnatal examinations were evaluated. The microdeletions were detected by karyotyping or microarray, then confrmed by FISH. Descriptive statistical analysis was performed. Results Demographic data of 48 prenatal cases including 46 singletons and 1 dichorionic diamniotic twin pregnancy were evaluated. The most common extracardiac anomaly was skeletal system anomalies (25%), in which PEV was the most frequent one (20.8%). Polyhydramnios rate was detected as 31%, in 6.6% as an isolated fnding. Microdeletion has been detected by karyotyping in 13 cases (13/47, 27.7%) (including 2 unbalanced translocations), by FISH in 28 cases (28/48, 58.3%), by microarray/a-CGH testing in 7 cases. Microarray analysis showed that in one case with unbalanced translocation had two consecutive deletions; one was proximal and other one distal to critical region and not encompassing TBX1 gene but CRKL and LZTR1 genes. Conclusion The current study demonstrates the whole spectrum of atypical phenotypic and genotypic variations of 22q11.2DS in the largest prenatal case series reported to date. Therefore, diferential diagnosis should be considered not solely in CHD, but also in the presence of isolated clubfeet and polyhydramnios. Establishing the diagnosis in the prenatal period may allow a postnatal multidisciplinary approach, as well as afect the actual prevalence of the disease.
dc.language.isoeng
dc.subjectAssessment and Diagnosis
dc.subjectMedicine (miscellaneous)
dc.subjectGeneral Medicine
dc.subjectLife Sciences
dc.subjectHealth Sciences
dc.subjectPathophysiology
dc.subjectInternal Medicine
dc.subjectKlinik Tıp (MED)
dc.subjectYaşam Bilimleri (LIFE)
dc.subjectKlinik Tıp
dc.subjectMoleküler Biyoloji ve Genetik
dc.subjectTIP, GENEL & İÇECEK
dc.subjectGENETİK VE HAYAT
dc.subjectGeneral Health Professions
dc.subjectFundamentals and Skills
dc.subjectGenetics (clinical)
dc.subjectFamily Practice
dc.subjectGenetics
dc.subjectTıbbi Genetik
dc.subjectDahili Tıp Bilimleri
dc.subjectSağlık Bilimleri
dc.subjectTıp
dc.titlePrenatal sonographic and cytogenetic/molecular findings of 22q11.2 microdeletion syndrome in 48 confirmed cases in a single tertiary center.
dc.typeMakale
dc.relation.journalArchives of gynecology and obstetrics
dc.contributor.departmentİstanbul Üniversitesi , İstanbul Tıp Fakültesi , Cerrahi Tıp Bilimleri Bölümü
dc.identifier.issue2
dc.contributor.firstauthorID2702893


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