Turkiye Klinikleri Journal of Pediatrics

.: ORIGINAL RESEARCH
Kromozom 22q11.2 Delesyon Sendromu Tanılı Hastaların Klinik ve Laboratuvar Özellikleri
Evaluation of the Clinical and Laboratory Findings of Patients with Chromosome 22q11.2 Deletion Syndrome
Filiz HAZANa, Özlem NALBANTOĞLUb, Semra GÜRSOYc, Selime ÖZENd, Murat Muhtar YILMAZERe, Ferah GENELd, Timur MEŞEe, Behzat ÖZKANb
aDr. Behçet Uz Çocuk Sağlığı ve Hastalıkları Eğitim ve Araştırma Hastanesi, Tıbbi Genetik Kliniği, İzmir, TÜRKİYE
bDr. Behçet Uz Çocuk Sağlığı ve Hastalıkları Eğitim ve Araştırma Hastanesi, Çocuk Endokrinoloji Kliniği, İzmir, TÜRKİYE
cDr. Behçet Uz Çocuk Sağlığı ve Hastalıkları Eğitim ve Araştırma Hastanesi, Çocuk Genetik Kliniği, İzmir, TÜRKİYE
dDr. Behçet Uz Çocuk Sağlığı ve Hastalıkları Eğitim ve Araştırma Hastanesi, Çocuk İmmünoloji ve Alerji Kliniği, İzmir, TÜRKİYE
eDr. Behçet Uz Çocuk Sağlığı ve Hastalıkları Eğitim ve Araştırma Hastanesi, Çocuk Kardiyoloji Kliniği, İzmir, TÜRKİYE
Turkiye Klinikleri J Pediatr. 2021;30(2):117-26
doi: 10.5336/pediatr.2021-81283
Article Language: TR
Full Text
ÖZET
 Amaç: Bu çalışmada; kromozom 22q11.2 Delesyon Sendromu (22q11.2DS) tanısı konulan hastaların, genetik polikliniğine başvuru nedenleri ile birlikte, klinik ve laboratuvar bulgularının ayrıntılı olarak değerlendirilmesi amaçlandı. Ayrıca bu sendroma özgü fizik muayene bulgularına dikkat çekilerek, erken tanı ve izlemdeki önemleri vurgulandı. Gereç ve Yöntemler: Ocak 2014 ve Nisan 2018 tarihleri arasında 'Floresan in Situ Hibridizasyon Analizi' ile 22q11.2DS tanısı konulan 13 hasta çalışma kapsamına alındı. Hastaların başvuru yakınmaları, fizik ve dismorfik muayene bulguları, tanı alma yaşları, laboratuvar ve görüntüleme sonuçları, dosyalarından geriye dönük olarak incelenerek değerlendirildi. Bulgular: Hastaların, genetik polikliniğine en sık başvuru nedenleri; atipik yüz görünümü ve kardiyak anomali olarak saptandı. Hastalar, klinik bulgularına göre değerlendirildiğinde en sık bulgular; öğrenme geriliği (13 hasta; %100), doğumsal kalp anomalileri (12 hasta; %92,3) dismorfik yüz bulguları (11 hasta; %84,6) ve hipernazal konuşma (10 hasta; %76,9) idi. Dört (%30,9) hastada, yarık damak tespit edildi. Boy kısalığı 3 hastada görülürken, büyüme hormon eksikliği hiçbir hastada saptanmadı. Üç (%23) hastaya hipoparatiroidizm, 5 (%38,4) hastaya hipokalsemi ve 4 (%30,7) hastaya hipotiroidi tanısı konuldu. İki (%15,4) hastada ise timus hipoplazisi vardı. İskelet sistemi değerlendirilmesinde; 2 (%15,4) hastada skolyoz, 1 (%7,6) hastada platibazi ve 1 (%7,6) hastada pes ekinovarus deformitesi saptandı. Bağ dokusu problemi olarak; 3 (%23,1) hastada umblikal herni ve 1 (%7,6) hastada ise inguinal herni tespit edildi. Sonuç: 22q11.2DS'li hastalarda, majör klinik bulguların yanında, diğer sistemik bulguların varlığı da mutlaka araştırılmalıdır. Hastaları değerlendirirken özellikle; skolyoz, platibazi, umblikal ve inguinal herni gibi iskelet sistemi ve bağ dokusu anomalileri açısından da dikkatli olunmalıdır.

Anahtar Kelimeler: 22q11.2 Delesyon Sendromu; iskelet sistemi; skolyoz; platibazi; herni
ABSTRACT
 Objective: It was aimed to evaluate in detail the clinical and laboratory findings of the patients diagnosed with chromosome 22q11.2 Deletion syndrome (22q11.2DS), together with the reasons for their application to the genetic clinic. In addition, by drawing attention to the physical examination findings specific to this syndrome, their importance in early diagnosis and follow-up was emphasized. Material and Methods: A total of 13 patients diagnosed with 22q11.2DS by Fluorescence in Situ Hybridization Analysis between January 2014 and April 2018 were included in this study. The causes of admission, physical and dysmorphic features, age of diagnosis, laboratory and imaging results of the patients were retrospectively evaluated from their medical records. Results: Atypical facial appearance and cardiac anomalies were the most common reasons for admission to genetic clinic. The most common features of the patients were learning disability (13 patients; 100%), congenital heart anomalies (12 patients; 92.3%), dysmorphic facial findings (11 patients; 84.6%), and hypernasal speech (10 patients; 76.9%). Cleft palate was seen in 4 patients (30.9%). While short stature was found in 3 patients, growth hormone deficiency was not detected in any of them. Hypoparathyroidism, hypocalcemia and hypothyroidism were seen in 3 patients (23%), 5 patients (%38.4), and 4 patients (30.7%), respectively. Two patients (15.4%) had thymus hypoplasia. During evaluation of skeletal system scoliosis, platybasia and pes equinovarus were observed in 2 patients (15.4%), 1 patient (7.6%), and 1 patient (7.6%) respectively. Connective tissue problems including, umbilical hernia (3 patients; 23.1%), and inguinal hernia (1 patient; 7.6%) were also noted. Conclusion: In addition to major clinical findings, the presence of other systemic findings should definitely be investigated in the evaluation of patients with 22q11.2DS. Care should be taken when evaluating patients with 22q11.2DS in terms of possible anomalies such as skeletal system and connective tissue pathologies including especially scoliosis, platibasia, umbilical and inguinal hernia.

Keywords: 22q11.2 Deletion Syndrome; skeletal system; scoliosis; platybasia; hernia
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-It is not responsible for other websites’ contents it cannot control or the harms they may cause although it uses the connection they provided.

Ortadoğu Advertisement Presentation Publishing Tourism Education Architecture Industry and Trade Inc. may block the website to users in the following events:

-Information with wrong, incomplete, deceiving or immoral expressions is recorded to the website,

-Proclamation, advertisement, announcement, libelous expressions are used against natural person or legal identity,

-During various attacks to the website,

-Disruption of the website because of a virus.

Written, visual and audible materials of the website, including the code and the software are under protection by legal legislation.

Without the written consent of Ortadoğu Advertisement Presentation Publishing Tourism Education Architecture Industry and Trade Inc. the information on the website cannot be downloaded, changed, reproduced, copied, republished, posted or distributed.

All rights of the software and the design of the website belong to Ortadoğu Advertisement Presentation Publishing Tourism Education Architecture Industry and Trade Inc.

Ortadoğu Advertisement Presentation Publishing Tourism Education Architecture Industry and Trade Inc. will be pleased to hear your comments about our terms of use. Please share the subjects you think may enrich our website or if there is any problem regarding our website.

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