Prevalence of Translocation Phenotyping in Children With Down Syndrome and Their Parents

NCT07175168 | Not Yet Recruiting

• 1 other identifier: DS-TRANSLOC-2025
• Study Type: observational
• Target: 230
• Locations: 0 countries
• Sites: N/A

Brief Summary

This research study will investigate a special type of Down syndrome called translocation Down syndrome. While most children with Down syndrome have an extra copy of chromosome 21, about 3-4% have this extra chromosome material attached to another chromosome, known as a translocation. This form can sometimes be inherited from a parent who carries a balanced translocation. The aim of the study is to find out how common translocation Down syndrome is among children with confirmed Down syndrome in Assiut, Egypt, and to check whether their parents are carriers of a balanced translocation. Understanding this will help improve family counseling, estimate the chance of recurrence in future pregnancies, and guide genetic screening and prevention strategies.

Conditions

Translocation Down Syndrome; Chromosomal Abnormalities

Keywords

Balanced translocation; trisomy 21; Translocation; Down syndrome

Outcome Measures

Primary Outcomes (1)

• Prevalence of unbalanced translocation Down syndrome among children with cytogenetically confirmed Down syndrome

  Proportion of enrolled children (0-18 years) with unbalanced translocation identified by standard karyotyping.

  At the time of enrollment (October 2025 - September 2027)

Study Arms (2)

Children with Down Syndrome

Children (0-18 years) with cytogenetically confirmed Down syndrome, recruited from Assiut University Children's Hospital and Health Insurance Hospital. All participants will undergo full clinical assessment and karyotyping.

Other: No medical or experimental intervention will be administered

Parents of Children with Down Syndrome

Available biological parents of enrolled children will undergo chromosomal analysis (karyotyping) to determine balanced translocation carrier status.

Other: No medical or experimental intervention will be administered

Interventions

No medical or experimental intervention will be administered OTHER

Laboratory procedures (blood sampling for karyotyping, basic investigations such as echocardiography, thyroid function tests, abdominal ultrasound) are part of standard diagnostic assessment, not rese

Children with Down Syndrome; Parents of Children with Down Syndrome

Eligibility Criteria

• Age: 1 Year - 18 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64)
• Sampling Method: Probability Sample

Study Population

Children with cytogenetically confirmed Down syndrome attending Assiut University Children's Hospital and Health Insurance Hospital, along with their biological parents for karyotyping.

You may qualify if:

• Children aged 0-18 years with confirmed diagnosis of Down syndrome by chromosomal analysis.
• Availability of at least one biological parent willing to undergo chromosomal analysis.

You may not qualify if:

• Children with Down syndrome due to free trisomy 21 or mosaicism.
• Incomplete parental data or refusal of parental participation.

Sponsors & Collaborators

• Assiut University: lead

Biospecimen

Retention: SAMPLES WITH DNA

"Peripheral blood samples will be collected from children and their parents for cytogenetic (karyotype) analysis. Samples will be processed for standard cytogenetic testing and retained only as required for completion/verification of the cytogenetic analyses. No specimens will be used for future unspecified DNA research or biobanking unless additional ethics approval is obtained and separate written consent is obtained from the participant/parent."

MeSH Terms

Conditions

Chromosome Aberrations; Down Syndrome

Condition Hierarchy (Ancestors)

Pathologic Processes; Pathological Conditions, Signs and Symptoms; Intellectual Disability; Neurobehavioral Manifestations; Neurologic Manifestations; Nervous System Diseases; Abnormalities, Multiple; Congenital Abnormalities; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Chromosome Disorders; Genetic Diseases, Inborn

Central Study Contacts

fady bassim fathy, resident

CONTACT

01223011968; bassimfady@gmail.com

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: resident

Study Record Dates

• First Submitted: September 9, 2025
• First Posted: September 16, 2025
• Study Start: October 1, 2025
• Primary Completion (Estimated): October 31, 2026
• Study Completion (Estimated): December 1, 2026
• Last Updated: September 16, 2025

Record last verified: 2025-09