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

NCT07167017 · Status: NOT_YET_RECRUITING · Type: OBSERVATIONAL · Enrollment: 75

Last updated 2025-09-11

No results posted yet for this study

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.

Conditions

  • Congenital Anomalies
  • Development Delay

Sponsors & Collaborators

  • Assiut University

    lead OTHER

Principal Investigators

  • Mohamed Mahrous Mohamed, Professor of pediatrics · Assiut University

  • Mohamed Abobakr Mohamed, Lecturer of pediatr · Assiut University

Eligibility

Min Age
1 Month
Max Age
12 Years
Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2025-11-01
Primary Completion
2026-11-01
Completion
2026-12-31

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT07167017 on ClinicalTrials.gov