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

NCT07167017 | Not Yet Recruiting

• 1 other identifier: karyotyping results
• Study Type: observational
• Target: 75
• Locations: 0 countries
• Sites: N/A

Brief 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. 1.History will be taken including demographic data of child age, parental age, consanguinity and relevant family history and developmental history.
2. 2.Clinical examination for any fascial dysmorphism, congenital heart disease, skeletal deformities, renal anomalies or any associated features.
3. 3.Clinical assessment of developmental milestones.
4. 4.Investigations done including laboratory tests, ultrasound scan, x-rays, CT scan, echocardiography or any other investigation.
5. 5.Karyotyping results detected if aneuploidy or structural abnormality including chromosomal deletions, duplications, translocations or inversions.
6. 6.Other genetics tests done including Comparative microarray, FISH (Fluorescence in Situ Hybridization), and WES (Whole Exome Sequencing).
7. 7.If parental karyotyping for suspected translocations was done.

Conditions

Congenital Anomalies; Development Delay

Keywords

karyotyping; congenital anomalies; developmental delay

Outcome Measures

Primary Outcomes (1)

• Result Of Karyotyping in Pediatric Patients with Congenital Anomalies and Developmental Delay at Assiut University Children Hospital

  To detect the incidence of congenital anomalies and developmental delay tested with karyotyping and to detect karyotyping findings of chromosomal numerical or structural abnormalities that cause clinical features.

  November 2025-December 2026

Secondary Outcomes (1)

• Result Of Karyotyping in Pediatric Patients with Congenital Anomalies and Developmental Delay at Assiut University Children Hospital

  November 2025-December 2026

Eligibility Criteria

• Age: 1 Month - 12 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17)
• Sampling Method: Non-Probability Sample

Study Population

Children aged between 1 months, and 12 years presented at Assiut university hospital with congenital anomalies and developmental delay either global developmental delay or affecting one domain (cognitive, motor, speech and language or social) during the year 2025-2026.

You may qualify if:

• All patients aged between 1 month to 12 years old who are presented with morphologic congenital anomalies associated with developmental delay either global DD or isolated developmental domain (cognitive, motor, speech and language or social) who are tested for chromosomal abnormalities

You may not qualify if:

• Any patient aged between 1 month and 12 years old who is presented with Developmental Delay and congenital anomalies who didn't undergo karyotyping or other genetic testing.

Sponsors & Collaborators

• Assiut University: lead

MeSH Terms

Conditions

Congenital Abnormalities; Learning Disabilities

Condition Hierarchy (Ancestors)

Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Communication Disorders; Neurobehavioral Manifestations; Neurologic Manifestations; Nervous System Diseases; Signs and Symptoms; Pathological Conditions, Signs and Symptoms; Neurodevelopmental Disorders; Mental Disorders

Study Officials

• Mohamed Mahrous Mohamed, Professor of pediatrics

  Assiut University

  STUDY DIRECTOR

• Mohamed Abobakr Mohamed, Lecturer of pediatr

  Assiut University

  STUDY DIRECTOR

Central Study Contacts

Manahil Dr.

CONTACT

00201107189787; manahilelkarsani773@med.aun.edu.eg

Manahil Elkarsani, MBBS

CONTACT

00201107189787; manahilelkarsani773@med.aun.edu.eg

Study Design

• Study Type: observational
• Observational Model: CASE ONLY
• Time Perspective: CROSS SECTIONAL
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Master degree student

Study Record Dates

• First Submitted: September 3, 2025
• First Posted: September 11, 2025
• Study Start: November 1, 2025
• Primary Completion (Estimated): November 1, 2026
• Study Completion (Estimated): December 1, 2026
• Last Updated: September 11, 2025

Record last verified: 2025-09