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Yapay Zeka Hızlı Bakış & Çıkarımlar
AI Insight⚡ TL;DR(1 Cümlede Hızlı Çıkarım)
Karyotype was found as 49, XXXXY and this cytogenetic analysis was help to establish clinical diagnosis Fraccaro syndrome.
📌 3 Maddede Bu Makale
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Amaç & Hipotez:Fraccaro syndrome: 49, XXXXY is rare chromosomal pattern and these patients have mental retardation, small penis, cryptorchidism and skeletal anomalies.
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Temel Bulgular & Veri:We reported a six month-old boy who has hypotonia, microcephaly, hypertelorism, depressed nasal bridge, epicanthal folds, high arched palate, down set ears, micrognathy and patent ductus arteriosus.
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Sonuç & Katkı:Karyotype was found as 49, XXXXY and this cytogenetic analysis was help to establish clinical diagnosis Fraccaro syndrome.
🔬Tür:Araştırma Makalesi
📍Kapsam:Genişletilmiş Akademik Örneklem
⚙️Değişkenler:Alan Parametreleri
Abstract
Fraccaro syndrome: 49, XXXXY is rare chromosomal pattern and these patients have mental retardation, small penis, cryptorchidism and skeletal anomalies. We reported a six month-old boy who has hypotonia, microcephaly, hypertelorism, depressed nasal bridge, epicanthal folds, high arched palate, down set ears, micrognathy and patent ductus arteriosus. Among the skeletal anomalies, except ulnoradial distal dislocation and kyphoscoliosis, at first discovered bilateral club foot. Karyotype was found as 49, XXXXY and this cytogenetic analysis was help to establish clinical diagnosis Fraccaro syndrome.
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Bu Makaleye Atıf Yap
KARAHAN, S. D., ÖZER, G., YÜKSEL, B., CAN, Z. (2022). New clinical signs at Fraccaro syndrome (49, XXXXY)-bilateral club foot: A case report. Annals of Medical Sciences, Cilt: 11 - Sayı: 2-3-4, 62–65. https://ajindex.com/articles/447433