Prevalence of Translocation Phenotyping in Children With Down Syndrome and Their Parents
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Простыми словами
Автоматическая сводка по структурированным данным реестра. Она помогает сориентироваться, но не заменяет официальный протокол или оценку врача.
- Что изучают
- В протоколе указаны: No medical or experimental intervention will be administered.
- Кому может быть актуально
- Состояния в реестре: Translocation Down Syndrome, Chromosomal Abnormalities. Базовые параметры: 1 год — 18 лет · Все.
- Что важно проверить
- Возраст, диагноз и пол — только базовые ориентиры. Предыдущее лечение, анализы и другие обязательные условия указаны ниже в критериях участия.
- Где проводится
- Список центров уточняется — проверьте первичный протокол.
- Следующий шаг
- Сохраните исследование, покажите его лечащему врачу и уточните актуальный статус у исследовательского центра. Расходы, документы и поездка →
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Официальное название
Prevalence of Translocation Phenotyping in Children With Down Syndrome and Their Parents: A Cross-Sectional Study
Обзор
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.
Подробное описание
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.
Вмешательства
- Другое 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
Первичные конечные точки
- Prevalence of unbalanced translocation Down syndrome among children with cytogenetically confirmed Down syndrome [Срок оценки: At the time of enrollment (October 2025 - September 2027)]
Критерии участия
Критерии включения
- 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.
Критерии исключения
- Children with Down syndrome due to free trisomy 21 or mosaicism.
Incomplete parental data or refusal of parental participation.
Критерии приведены из реестра в оригинале (на английском). Окончательную оценку соответствия проводит исследовательский центр.
Здоровые добровольцы: Нет
Дизайн исследования
- Модель наблюдения
- Когортное
Центры проведения
Список центров уточняется — проверьте первичный протокол.
Идентификаторы
NCT: NCT07175168 · DS-TRANSLOC-2025