Translocation Down SyndromePTP-DSNCT07175168
Prevalence of Translocation Phenotyping in Children With Down Syndrome and Their Parents
An observational study of Translocation Down Syndrome and Chromosomal Abnormalities, run by Assiut University.
Trial 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. Read more about this study
- Who is it for?
- Ages 1 year to 18 years
- Conditions the study is for
- Translocation Down Syndrome, Chromosomal Abnormalities
- What is being tested?
- No medical or experimental intervention will be administered
- How many people
- 230 participants
- Where
- No sites listed yet
- Study dates
- 1 Oct 2025to 1 Dec 2026
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 1 year to 18 years
- All sexes
- No healthy volunteers
- Child, Adult
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.
Who may be able to join
- 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.
Who cannot join
- Children with Down syndrome due to free trisomy 21 or mosaicism.
- Incomplete parental data or refusal of parental participation.
Trial locations and contacts
No sites are listed yet. Contact the study team or a site near you to ask about taking part.
About this study
Official title: Prevalence of Translocation Phenotyping in Children With Down Syndrome and Their Parents: A Cross-Sectional Study
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.
Read the detailed description
Down syndrome (DS) is the most common chromosomal disorder, occurring in approximately 1 in 700 live births worldwide, and is associated with intellectual disability and multiple congenital anomalies. The majority of cases (about 95%) are due to free trisomy 21, while translocation DS accounts for 3-4% and mosaic DS for 1-2%. Translocation DS occurs when extra chromosome 21 material is attached to another chromosome, commonly chromosome 14 or 22. This form is clinically important because it may be inherited from a balanced translocation carrier parent, which has major implications for recurrence risk, genetic counseling, and family planning.
This cross-sectional descriptive study will be conducted at Assiut University Children's Hospital, Pediatric Genetics Unit, and Health Insurance Hospital from October 2025 to September 2027. A total of 230 children with cytogenetically confirmed Down syndrome will be included, along with their available parents for karyotyping. Children with free trisomy 21 or mosaicism will be excluded.
Data collection will include demographic characteristics, detailed family and medical history, full clinical examination, and cytogenetic analysis of both children and their parents. Baseline investigations such as echocardiography, thyroid function tests, and abdominal ultrasound will be performed to document associated comorbidities.
The primary outcome is the prevalence of unbalanced translocation among children with Down syndrome. The secondary outcome is the prevalence of balanced translocation carrier status among parents. Data analysis will be performed using SPSS v27 with descriptive and inferential statistics, with significance set at p < 0.05.
Ethical approval has been obtained from the Assiut University Faculty of Medicine Ethics Committee. Written informed consent will be secured from all parents prior to participation.
This study is expected to provide valuable local prevalence data on translocation Down syndrome, support genetic counseling efforts, and inform recommendations for parental karyotyping and recurrence risk assessment in Egyptian families affected by Down syndrome.
- Being tested
- No medical or experimental intervention will be administered
- Keywords
- Balanced translocation, trisomy 21, Translocation, Down syndrome
- Medical subject headings
- Chromosome Aberrations, Down Syndrome
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
No medical or experimental intervention will be administeredOther
Laboratory procedures (blood sampling for karyotyping, basic investigations such as echocardiography, thyroid function tests, abdominal ultrasound) are part of standard diagnostic assessment, not rese
| Study group | Role | What they receive |
|---|---|---|
| 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. Receives: 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. Receives: Other: No medical or experimental intervention will be administered |
What is being measured
The primary outcome is the main question the study is designed to answer.
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.
Measured: At the time of enrollment (October 2025 - September 2027)
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted16 Sep 2025
- Study start1 Oct 2025 (estimated)
- Primary completion31 Oct 2026 (estimated)
- Study completion1 Dec 2026 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Translocation Down SyndromeStudies of the same condition, open and under way.
- More trials run by Assiut UniversityThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Prospective
- Enrolment
- 230 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Assiut University
- Sponsor type
- University, hospital or other
- Responsible party
- Principal investigator, Fady Bassem, Assiut University
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT07175168
- Sponsor's protocol ID
- DS-TRANSLOC-2025
- Acronym
- PTP-DS
- Status last verified
- Sep 2025
- First submitted
- 9 Sep 2025
- Last updated
- 16 Sep 2025
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- Undecided
Study at a glance
From the registry record, last updated by the sponsor on 16 Sep 2025. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Prevalence of Translocation Phenotyping in Children With Down Syndrome and Their Parents: A Cross-Sectional Study
- ClinicalTrials.gov ID
- NCT07175168
- Acronym / sponsor ID
- PTP-DS / DS-TRANSLOC-2025
- Keywords
- Balanced translocation, trisomy 21, Translocation, Down syndrome
- Study type
- Observational
- Recruitment status
- Not yet recruiting
- Enrolment
- 230 participants (estimated)
- Lead sponsor
- Assiut UniversityUniversity, hospital or other
- Study start
- 1 Oct 2025 (estimated)
- Primary completion
- 31 Oct 2026 (estimated)
- Study completion
- 1 Dec 2026 (estimated)
- First posted
- 16 Sep 2025 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Detailed description
Down syndrome (DS) is the most common chromosomal disorder, occurring in approximately 1 in 700 live births worldwide, and is associated with intellectual disability and multiple congenital anomalies. The majority of cases (about 95%) are due to free trisomy 21, while translocation DS accounts for 3-4% and mosaic DS for 1-2%. Translocation DS occurs when extra chromosome 21 material is attached to another chromosome, commonly chromosome 14 or 22. This form is clinically important because it may be inherited from a balanced translocation carrier parent, which has major implications for recurrence risk, genetic counseling, and family planning.
This cross-sectional descriptive study will be conducted at Assiut University Children's Hospital, Pediatric Genetics Unit, and Health Insurance Hospital from October 2025 to September 2027. A total of 230 children with cytogenetically confirmed Down syndrome will be included, along with their available parents for karyotyping. Children with free trisomy 21 or mosaicism will be excluded.
Data collection will include demographic characteristics, detailed family and medical history, full clinical examination, and cytogenetic analysis of both children and their parents. Baseline investigations such as echocardiography, thyroid function tests, and abdominal ultrasound will be performed to document associated comorbidities.
The primary outcome is the prevalence of unbalanced translocation among children with Down syndrome. The secondary outcome is the prevalence of balanced translocation carrier status among parents. Data analysis will be performed using SPSS v27 with descriptive and inferential statistics, with significance set at p < 0.05.
Ethical approval has been obtained from the Assiut University Faculty of Medicine Ethics Committee. Written informed consent will be secured from all parents prior to participation.
This study is expected to provide valuable local prevalence data on translocation Down syndrome, support genetic counseling efforts, and inform recommendations for parental karyotyping and recurrence risk assessment in Egyptian families affected by Down syndrome.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| Children with Down Syndrome | – | Other: No medical or experimental intervention will be administeredChildren (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. |
| Parents of Children with Down Syndrome | – | Other: No medical or experimental intervention will be administeredAvailable biological parents of enrolled children will undergo chromosomal analysis (karyotyping) to determine balanced translocation carrier status. |
Who may qualify
- Ages
- 1 year to 18 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult
- 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.
Key inclusion criteria (2 listed)
- 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.
Key exclusion criteria (2 listed)
- Children with Down syndrome due to free trisomy 21 or mosaicism.
- Incomplete parental data or refusal of parental participation.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| No medical or experimental intervention will be administeredLaboratory procedures (blood sampling for karyotyping, basic investigations such as echocardiography, thyroid function tests, abdominal ultrasound) are part of standard diagnostic assessment, not rese | Other | Children with Down Syndrome, Parents of Children with Down Syndrome |
Primary outcome
Prevalence of unbalanced translocation Down syndrome among children with cytogenetically confirmed Down syndrome
Time frame: At the time of enrollment (October 2025 - September 2027)
Proportion of enrolled children (0-18 years) with unbalanced translocation identified by standard karyotyping.
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 16 Sep 2025.
- Individual participant dataSharing planned: Undecided
Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
Questions about this trial
What is this clinical trial studying?
An observational study of Translocation Down Syndrome and Chromosomal Abnormalities, run by Assiut University.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 2 inclusion and 2 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: opening soon, as of the sponsor's last update on 16 Sep 2025. Status can change between updates, so confirm with the study contact before making plans.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact fady bassim fathy, resident (01223011968, bassimfady@gmail.com), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Prevalence of unbalanced translocation Down syndrome among children with cytogenetically confirmed Down syndrome (time frame: At the time of enrollment (October 2025 - September 2027)). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 16 Sep 2025.