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

Duygu Onur CURA; Elçin BORA; Özlem Giray BOZKAYA; Mustafa KIR; Derya ERÇAL; Tufan ÇANKAYA

doi:https://doi.org/10.30621/jbachs.2020.987

Article Details

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

Authors:

Duygu Onur CURA | Elçin BORA | Özlem Giray BOZKAYA | Mustafa KIR | Derya ERÇAL | Tufan ÇANKAYA

Publisher:

Dokuz Eylul University

Journal:

Journal of Basic and Clinical Health Sciences 2020 Vol.4 Issue 2, pp.114-117

Document Type:

Article

Publication Date:

5/2020

Document Language:

English

Document ID (Org No.):

2000493497

Frequency:

Tri-annual

eISSN:

2564-7288

DOI:

https://doi.org/10.30621/jbachs.2020.987

Abstract:

 

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.  Methods: Evaluation was made of the clinical findings of patients who underwent the FISH test for 22q11.2 deletion syndrome between 2006  and 2017.  Results: Of the 180 patients, 152  84.45%  had cardiac defects, 5  2.78%  had immune defects, 132  73.4%  had dysmorphic findings and  52  28.89%  had growth / developmental delay. Ten patients had 22q11.2 deletion syndrome  5.56%  and 9 of these had cardiac defects.  Hypocalcemia was present in 5  50%  patients and only one patient had immunodeficiency.  Conclusion: In this study, the accuracy of the indication was evaluated retrospectively based on the clinical findings of patients who underwent  FISH analysis for 22q11.2 deletion syndrome. In cases with congenital cardiac defects, although 22q11.2 deletion syndrome is one of the  possible diagnoses of the clinician, a detailed examination of the defect type before testing will increase the diagnosis rate. It should be kept in  mind that this syndrome should be considered in the presence of major findings such as immunodeficiency or hypocalcemia.

Article Details

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

Authors: Duygu Onur CURA | Elçin BORA | Özlem Giray BOZKAYA | Mustafa KIR | Derya ERÇAL | Tufan ÇANKAYA

Publisher: Dokuz Eylul University

Journal: Journal of Basic and Clinical Health Sciences 2020 Vol.4 Issue 2, pp.114-117

Document Type: Article

Publication Date: 5/2020

Document Language: English

Document ID (Org No.): 2000493497

Frequency: Tri-annual

eISSN: 2564-7288

DOI: https://doi.org/10.30621/jbachs.2020.987

Issues

Authors:

Duygu Onur CURA | Elçin BORA | Özlem Giray BOZKAYA | Mustafa KIR | Derya ERÇAL | Tufan ÇANKAYA

Publisher:

Dokuz Eylul University

Journal:

Journal of Basic and Clinical Health Sciences 2020 Vol.4 Issue 2, pp.114-117

Document Type:

Article

Publication Date:

5/2020

Document Language:

English

Document ID (Org No.):

2000493497

Frequency:

Tri-annual

eISSN:

2564-7288

DOI:

https://doi.org/10.30621/jbachs.2020.987