AI Summary & Key Takeaways
AI InsightThe clinical diagnosis of patient was confirmed with karyotyping and FISH (Fluorescence in situ hybridisation) study
📌 3 Key Takeaways
Abstract
4 year-old male child was brought to hospital with the complaints of motor and mental retardation and difficulty in speech. Physical examination revealed typical features for trisomy 9p such as facial dysmorphism, kyphosis, kryptorchidism, 5<sup>th</sup> finger hypoplasia and clinodactyly. The clinical diagnosis of patient was confirmed with karyotyping and FISH (Fluorescence in situ hybridisation) study
Özet
Konuşma bozukluğu ve motor mental retardasyon nedeniyle başvuran 4 yaşında bir erkek olguda tipik fasiyal dismorfizm, kifoz, kriptorşidizm, 5.parmağında hipoplazi ve klinodaktili gibi bulgularla trizomi 9 düşünülmüştür. Karyotipik inceleme ve bunun sonrasında yapılan fluorosan in situ hibridizasyon (FISH) sonucu 9 numaralı kromozomun kısa kolunun trizomisi gösterilmiştir.