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

NCT07175168 · Status: NOT_YET_RECRUITING · Type: OBSERVATIONAL · Enrollment: 230

Last updated 2025-09-16

No results posted yet for this study

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

Interventions

OTHER

No medical or experimental intervention will be administered

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

Sponsors & Collaborators

  • Assiut University

    lead OTHER

Eligibility

Min Age
1 Year
Max Age
18 Years
Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2025-10-01
Primary Completion
2026-10-31
Completion
2026-12-01

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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 NCT07175168 on ClinicalTrials.gov