How Much do we Know About the Findings of 22q11.2 Deletion Syndrome?: A Single-Centre Study with 11-Year Follow-Up

Cura, Duygu; BORA, ELÇİN; GİRAY BOZKAYA, ÖZLEM; KIR, MUSTAFA; Ercal, Derya; ÇANKAYA, TUFAN

doi:10.30621/jbachs.2020.987

How Much do we Know About the Findings of 22q11.2 Deletion Syndrome?: A Single-Centre Study with 11-Year Follow-Up

Cura D. O., BORA E., GİRAY BOZKAYA Ö., KIR M., Ercal D., ÇANKAYA T.

JOURNAL OF BASIC AND CLINICAL HEALTH SCIENCES, cilt.4, sa.2, ss.114-117, 2020 (ESCI, TRDizin)

Yayın Türü: Makale / Tam Makale
Cilt numarası: 4 Sayı: 2
Basım Tarihi: 2020
Doi Numarası: 10.30621/jbachs.2020.987
Dergi Adı: JOURNAL OF BASIC AND CLINICAL HEALTH SCIENCES
Derginin Tarandığı İndeksler: Emerging Sources Citation Index (ESCI), TR DİZİN (ULAKBİM)
Sayfa Sayıları: ss.114-117
Anahtar Kelimeler: 22q11.2 deletion syndrome, congenital cardiac defect, immunodeficiency, hypocalcemia
Dokuz Eylül Üniversitesi Adresli: Evet

Özet

Purpose: 22q11.2 deletion syndrome is a contiguous gene deletion syndrome with multisystem involvement characterized by cardiac defects, immunodeficiency and hypocalcemia. Variable expression and a wide range of clinical findings make it difficult for clinicians to decide on the test.