TY  - JOUR
T1  - Cri du Chat Sendromu, 5P Delesyonu Saptanan Beş Aylık Kız Olgu
TT  - A Five Month Old Girl with Deletion in 5thChromosome: Cri du Chat Syndrome
AU  - Şen, Tolga Altuğ
AU  - Melek, Hamide
AU  - Köken, Reşit
AU  - İmirzalıoğlu, Necat
PY  - 2008
DA  - December
JF  - Güncel Pediatri
PB  - Galenos Yayınevi
WT  - DergiPark
SN  - 1304-9054
SP  - 86
EP  - 88
VL  - 6
IS  - 4
LA  - tr
AB  - Beş aylık kız olgu yeterli tartı alamadığı için getirildi. Fizik muayenesinde boyu,kilosu, baş çevresi 3. persentilin altında olan olgunun açık renkli saçları, fasiyaldismorfizmi, yüksek damağı mevcuttu. Olgunun belirgin hipotonisi, motor retardasyonu saptanırken, tiz sesle ağlaması oldukça dikkat çekiciydi. Ekokardiyografide hemodinamik olarak önemsiz derecede olan sekundum tipi atrial septaldefekt ve midtrabeküler ventriküler septal defekt saptandı. Kraniyal MRI’da 4.ventriküllerde genişleme ve bazal ganglionlarda miyelinizasyon gecikmesi bulunmaktaydı. Olgunun periferik kanından yapılan high resolution binding kromozom analizinde 5. kromozom kısa kolunda delesyon saptanınca, 5p delesyon Cri du Chat  sendromu tanısı konuldu
KW  - Kedi ağlaması
KW  - 5 nolu kromozom
KW  - delesyon
KW  - hipotoni
KW  - tartıalamama
N2  - This five month-old girl was admitted to our clinic due to failure to thrive. Onphysical examination, her weight, length and head circumference was belowthe 3rd percentile, she had blond hair, facial dysmorphism and high archedpalate. Pronounced hypotonia and motor retardation was present and high-pitched crying was striking. In echocardiographic examination, secundum type ASD and midtrabecular VSD without any important hemodynamic effect was present. In cranial MRI exmination, dilated 4th ventricles and delayed myelinisation in basal ganglia was detected. By the helpof high resolution binding teqhnique, deletion in the short arm of the 5th chromosome was detected and diagnosis of Cri du Chat Syndrome was made
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UR  - http://dergipark.org.tr/tr/pub/pediatri/issue//667315
L1  - http://dergipark.org.tr/tr/download/article-file/908660
ER  -