Yıl 2019, Cilt 3, Sayı 1, Sayfalar 58 - 63 2019-01-27

DiGeorge Sendromu (Kromozom 22q11.2 delesyon sendromu): Altmış altı hastanın incelendiği tarihsel perspektif
DiGeorge syndrome (Chromosome 22q11.2 deletion syndrome): A historical perspective with review of 66 patients

Gökçe Celep [1] , Gönül Oğur [2] , Nazlıhan Günal [3] , Kemal Baysal [4]

96 129

Amaç: Doğumsal kalp hastalıkları insanlarda en sık görülen konjenital anomalilerdir. Kalbin çıkış yolu anomalileri olan konotrunkal kalp hastalıkları ve aort arkı anomalileri genellikle dismorfik sendromlara eşlik eder. 22q11.2 delesyon sendromu bu klinik durumun tipik örneklerindendir. Bu çalışma konotrunkal kalp anomalileri ve 22q11. 2 delesyon sendromunun diğer klinik bulgularının eşlik ettiği doğumsal kalp hastalıklarında 22q11.2 delesyon sıklığını araştırmak amacıyla planlanmıştır.

Yöntem: Yaşları 4 gün ile 16.6 yaş arasında değişen 56 konotrunkal kalp anomalili, 10 yapısal kalp anomalisi ile sendromun diğer klinik bulgularının eşlik ettiği 66 hasta çalışmaya katıldı. Tüm hastalara karyotip analizi uygulandı, Floresan in situ hibridizasyon yöntemiyle delesyon tarandı. Pozitif saptanan hastalar için klinik izlem protokolü oluşturuldu.

Bulgular: Hastaların %7.6 (n=5) delesyon saptandı. Dördü konotrunkal kalp anomalileri grubundandı. Tüm hastalarda kalp anomalisine ek olarak sendromun diğer klinik bulgularından en az biri mevcuttu. Fasiyal dismorfizm ve gelişme geriliği en sık saptanan klinik sorunlardı. Kognitif yetersizlik, beslenme sorunları, hipokalsemi, psikiyatrik sorunlar, bağışıklık sisteminde değişiklikler saptanan diğer klinik bulgulardı. Ebeveyn değerlendirmesi sonucunda bir annede de delesyon pozitifliği saptandı.

Sonuç: Tüm seçilmiş konotrunkal kalp anomalisi olan olgularda ve sendromun diğer anomalilerinin saptandığı kalp anomalili olgularda 22q11.2 delesyonun taranması gerektiği düşünülmektedir. Delesyon pozitifliği bulunan tüm olgular diğer anomaliler açısından da değerlendirlmeli ve genetik danışma sağlanmalıdır.

Aim: Congenital heart defects (CHD) are the most common major birth defects in humans. Conotruncal cardiac defects (CCD) and aortic arch anomalies, the outflow tract anomalies of the heart, usually accompany dysmorphic syndromes. Di George Syndrome, deletion of 22q11.2, is one of the typical examples for this entity. Our study was designed to determine the frequency of 22q11.2 deletion in a retrospectively ascertained sample of patients with conotruncal cardiac defects and structural cardiac defects accompanying other clinical findings of 22q11.2 deletion syndrome.

Methods: A total of 66 patients (4 days-16.6 years; mean 38 months), 56 followed with the diagnosis of conotruncal cardiac defects and 10 having congenital cardiac defects other than conotruncal abnormalities participated to our study . All patients underwent karyotype and Fluorescence in Situ Hybridization (FISH) analysis for 22q11.2 deletion. After the detection of the deletion a follow up protocol was formed for the patients

Results: Five of all patients were found to have the deletion positive (7.6%). Four of them had conotruncal cardiac defects. All patients having 22q11.2 deletion had at least one abnormality of the syndrome other than cardiac problems. Facial dysmorphism and growth retardation were the most common features .Cognitive disability, feeding problems, hypocalcemia, psychiatric problems, immunity differences were the other associated problems. Parental evaluation yielded one mother to be a deletion carrier.

Conclusion: We suggest that 22q11.2 deletion must be explored in all newborns with selective conotruncal cardiac defects and with non- conotruncal cardiac defects accompanying the other anomalies of the syndrome. All deletion positive patients must be evaluated for the accompanying features of the syndrome with genetic counselling.

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Birincil Dil en
Konular Genel ve Dahili Tıp
Dergi Bölümü Araştırma makalesi
Yazarlar

Orcid: 0000-0001-6250-5096
Yazar: Gökçe Celep (Sorumlu Yazar)
Kurum: Amasya Ünivesitesi, Tıp Fakültesi
Ülke: Turkey


Orcid: 0000-0000-0000-0000
Yazar: Gönül Oğur
Kurum: ONDOKUZ MAYIS ÜNİVERSİTESİ, TIP FAKÜLTESİ

Orcid: 0000-0000-0000-0000
Yazar: Nazlıhan Günal
Kurum: Medicana International Hospital

Orcid: 0000-0000-0000-0000
Yazar: Kemal Baysal
Kurum: ONDOKUZ MAYIS ÜNİVERSİTESİ, TIP FAKÜLTESİ

Bibtex @araştırma makalesi { josam513859, journal = {Journal of Surgery and Medicine}, issn = {}, eissn = {2602-2079}, address = {Fatih Başak}, year = {2019}, volume = {3}, pages = {58 - 63}, doi = {10.28982/josam.513859}, title = {DiGeorge syndrome (Chromosome 22q11.2 deletion syndrome): A historical perspective with review of 66 patients}, key = {cite}, author = {Celep, Gökçe and Oğur, Gönül and Günal, Nazlıhan and Baysal, Kemal} }
APA Celep, G , Oğur, G , Günal, N , Baysal, K . (2019). DiGeorge syndrome (Chromosome 22q11.2 deletion syndrome): A historical perspective with review of 66 patients. Journal of Surgery and Medicine, 3 (1), 58-63. DOI: 10.28982/josam.513859
MLA Celep, G , Oğur, G , Günal, N , Baysal, K . "DiGeorge syndrome (Chromosome 22q11.2 deletion syndrome): A historical perspective with review of 66 patients". Journal of Surgery and Medicine 3 (2019): 58-63 <http://dergipark.gov.tr/josam/issue/42845/513859>
Chicago Celep, G , Oğur, G , Günal, N , Baysal, K . "DiGeorge syndrome (Chromosome 22q11.2 deletion syndrome): A historical perspective with review of 66 patients". Journal of Surgery and Medicine 3 (2019): 58-63
RIS TY - JOUR T1 - DiGeorge syndrome (Chromosome 22q11.2 deletion syndrome): A historical perspective with review of 66 patients AU - Gökçe Celep , Gönül Oğur , Nazlıhan Günal , Kemal Baysal Y1 - 2019 PY - 2019 N1 - doi: 10.28982/josam.513859 DO - 10.28982/josam.513859 T2 - Journal of Surgery and Medicine JF - Journal JO - JOR SP - 58 EP - 63 VL - 3 IS - 1 SN - -2602-2079 M3 - doi: 10.28982/josam.513859 UR - http://dx.doi.org/10.28982/josam.513859 Y2 - 2019 ER -
EndNote %0 Journal of Surgery and Medicine DiGeorge syndrome (Chromosome 22q11.2 deletion syndrome): A historical perspective with review of 66 patients %A Gökçe Celep , Gönül Oğur , Nazlıhan Günal , Kemal Baysal %T DiGeorge syndrome (Chromosome 22q11.2 deletion syndrome): A historical perspective with review of 66 patients %D 2019 %J Journal of Surgery and Medicine %P -2602-2079 %V 3 %N 1 %R doi: 10.28982/josam.513859 %U 10.28982/josam.513859
ISNAD Celep, Gökçe , Oğur, Gönül , Günal, Nazlıhan , Baysal, Kemal . "DiGeorge Sendromu (Kromozom 22q11.2 delesyon sendromu): Altmış altı hastanın incelendiği tarihsel perspektif". Journal of Surgery and Medicine 3 / 1 (Ocak 2019): 58-63. http://dx.doi.org/10.28982/josam.513859