A case of 48,XXYY syndrome diagnosed with vague dysmorphic findings

We herein report a case of 48,XXYY syndrome diagnosed with dysmorphic findings while being followed with the diagnoses of Herpes encephalitis and intractable epilepsy.

📌 3 Key Takeaways

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Objective & Hypothesis:A case of 48,XXYY syndrome diagnosed with vague dysmorphic findings 48,XXYY aneuploidy considered previously to be a cytogenetic variant of Klinefelter's syndrome is currently being defined as a distinct clinical syndrome.

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Key Findings & Data:Behavioral problems, mental retardation and pugilistic facial appearance form the characteristic findings.

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Conclusion & Impact:We herein report a case of 48,XXYY syndrome diagnosed with dysmorphic findings while being followed with the diagnoses of Herpes encephalitis and intractable epilepsy.

🔬Design:Research Article

📍Scope:Comprehensive Sample

⚙️Variables:Vücut dismorfik bozuklukları · Doğumsal anormallikler · Erkek

Abstract

A case of 48,XXYY syndrome diagnosed with vague dysmorphic findings 48,XXYY aneuploidy considered previously to be a cytogenetic variant of Klinefelter's syndrome is currently being defined as a distinct clinical syndrome. Behavioral problems, mental retardation and pugilistic facial appearance form the characteristic findings. We herein report a case of 48,XXYY syndrome diagnosed with dysmorphic findings while being followed with the diagnoses of Herpes encephalitis and intractable epilepsy.

Özet

Önceleri Klinefelter sendromunun sitogenetik bir varyantı olarak düşünülen 48,XXYY anöploidisi, son zamanlarda ayrı bir klinik sendrom olarak tanımlanmaktadır. Davranış bozuklukları, mental gerilik ve "pugilistic" yüz görünümü karakteristik bulgularını oluşturmaktadır. Burada Herpes ensefaliti ve dirençli epilepsi tanılarıyla izlenmekteyken dismorfik bulgularla 48,XXYY sendromu tanısı konulan bir olgu sunulmaktadır.

Keywords

Vücut dismorfik bozuklukları Doğumsal anormallikler Erkek Klinefelter sendromu Süt çocuğu Body Dysmorphic Disorders Congenital Abnormalities Male Klinefelter Syndrome Infant

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Cite This Article

AFYONCU, A. O., TAŞÇILAR, M. E., VURUCU, S., ÜNAY, B., AKIN, R., GÜL, D. (2007). A case of 48,XXYY syndrome diagnosed with vague dysmorphic findings. Gülhane Tıp Dergisi, Cilt: 49 - Sayı: 4, 253–255. https://ajindex.com/articles/226207

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