Clinical Research Directory

Result Of Karyotyping in Pediatric Patients With Congenital Anomalies and Developmental Delay

Sponsor: Assiut University

Summary

The goal of this observational cross-sectional study is to study the results of karyotyping analysis for children presented with congenital anomalies and developmental delay aged 1 month to 12 years, the need for further genetic tastings and identification of parents who are carrier of balanced chromosomal translocations. The main question it aims to answer: What the is the incidence of congenital anomalies tested by karyotyping and the type of chromosomal abnormalities causing the clinical features. Researcher will take detailed clinical history, physical examination and developmental assessment for children and interpret karyotyping results. For participants data will be collected regarding: 1. History will be taken including demographic data of child age, parental age, consanguinity and relevant family history and developmental history. 2. Clinical examination for any fascial dysmorphism, congenital heart disease, skeletal deformities, renal anomalies or any associated features. 3. Clinical assessment of developmental milestones. 4. Investigations done including laboratory tests, ultrasound scan, x-rays, CT scan, echocardiography or any other investigation. 5. Karyotyping results detected if aneuploidy or structural abnormality including chromosomal deletions, duplications, translocations or inversions. 6. Other genetics tests done including Comparative microarray, FISH (Fluorescence in Situ Hybridization), and WES (Whole Exome Sequencing). 7. If parental karyotyping for suspected translocations was done.

Official title: Result Of Karyotyping in Pediatric Patients With Congenital Anomalies and Developmental Delay at Assiut University Children Hospital

Key Details

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