AI Summary & Key Takeaways
AI InsightThis result suggests that the disomy of chromosome Y does not alter the Down Syndrome phenotype supporting literature findings.
📌 3 Key Takeaways
Abstract
Here we describe a new case of 48, XYY, +21 which was identified during the routine cytogenetic analysis of a 21-year-old male to confirm the clinical diagnosis of Down Syndrome and to rule out the presence of a structural chromosomal aberration. Clinical evaluation of this patient who was followed up for 5 years revealed only the phenotypic abnormalities of Down Syndome. This result suggests that the disomy of chromosome Y does not alter the Down Syndrome phenotype supporting literature findings.
Özet
Yazımızda Down sendromu ön tanısı ilesitogenetik analiz ve klinik evalüasyon için refere edilen 21 günlük erkek bebekte bulunan 48, XYY, + 21 sitogenetik anomalisi sunulmaktadır. Beş yıl takip edilen olgunun klinik ve evolüsyonunda sadece Down Sendromuna ait klinik anomaliler gözlenmiştir. Bu sonuç literatürdeki benzer olgular gibi bizim olgumuzda da kromozom Y nin dizomisinin Down Sendromu fenotipini değiştirmediğini düşündürmektedir.