Prevalence of Translocation Phenotyping in Children With Down Syndrome and Their Parents
Trial statusNot yet recruiting
Trial phaseNot listed
Trial typeObservational
Biological sexAll
Age1-18
SponsorAssiut University
About this trial
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.
Eligibility criteria
This trial does not accept healthy volunteersQualifiers
Children aged 0-18 years with confirmed diagnosis of Down syndrome by chromosomal analysis.
Disqualifiers
Children with Down syndrome due to free trisomy 21 or mosaicism.
Trial population
Children with cytogenetically confirmed Down syndrome attending Assiut University Children's Hospital and Health Insurance Hospital, along with their biological parents for karyotyping.
Trial design
Design model
Cohort
Time perspective
Prospective
Treatments tested in this trial
No medical or experimental intervention will be administered
Other interventionLaboratory procedures (blood sampling for karyotyping, basic investigations such as echocardiography, thyroid function tests, abdominal ultrasound) are part of standard diagnostic assessment, not rese
Treatment groups
230 Participants
are divided into 2 treatment groupsGroup A: Children with Down Syndrome1 intervention
Group B: Parents of Children with Down Syndrome1 intervention
Trial outcomes
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.
Time frame
At the time of enrollment (October 2025 - September 2027)Locations
Sponsors and contacts
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Source ClinicalTrials.gov
This trial is not recruiting at the moment. You can still explore other options: