Uniparental Disomy 15 (UPD) Test - Angelman Syndrome and Prader Willi . Syndrome

The Uniparental Disomy 15 (UPD) test is performed for the diagnosis of suspected or prenatal diagnosis of infants at risk of Angelman syndrome and Prader Willi syndrome.

1. An overview of Angelman syndrome and Prader Willi . syndrome

Normally, each person inherits 1 chromosome from their father and 1 chromosome from their mother. However, in the case of Uniparental Disomy 15 (UP5), the patient received only 1 chromosome 15 or both fragments of chromosome 15 from either the father or the mother (the other parent did not. give me this chromosomal segment).
For patients who receive chromosome 15 from their father, they will have Angelman syndrome. If a patient receives a segment of chromosome 15 from their mother, they will develop Prader Willi syndrome.
1.1 Characteristics of Angelman syndrome People with the disease have the following characteristics:
Faces and actions are always excited and happy; Increased activity, poor concentration, difficulty sleeping and sleeping less; Often smiling, clapping, laughing; Hyperactive, likes to play with water; Growth retardation is evident at the age of 6 - 12 months; Mental retardation, poor language ability and autism; Small head; Have epilepsy ; Walking and balance disturbances; Scoliosis . 1.2 Characteristics of Prader Willi syndrome People with the disease have the following characteristics:
Always feeling hungry, always wanting to eat and being obese; Newborn: Poor muscle tone, poor feeding, poor growth, crossed eyes, poor coordination between eyes, or fatigue, low cry; Young children: Hunger leads to rapid and abundant weight gain, underdeveloped genitals, often incomplete puberty and infertility, delayed language development, behavioral disorders, learning disabilities , low muscle mass, short stature, short limbs, slow motor development (knowing to sit at 12 months, walking at 24 months), sleep disorders, myopia, scoliosis, good pain tolerance . Common complications in people with Prader Willi syndrome:
Complications related to obesity: Type 2 diabetes, heart disease and stroke, arthritis, sleep apnea; Complications of hypogonadism: A condition in which the sex organs do not secrete enough testosterone and estrogen. Complications include infertility and osteoporosis; Other complications: Eating a lot of fast food will cause the child's stomach to swell abnormally,...
Xét nghiệm Uniparental Disomy 15
Xét nghiệm Uniparental Disomy 15 (UPD) được thực hiện để chẩn đoán trước sinh cho trẻ có nguy cơ mắc hội chứng Angelman và hội chứng Prader Willi.

2. When is Uniparental Disomy 15 (UPD) tested?

Uniparental Disomy 15 (UPD) test is done for the following people:
Patients with suspected Uniparental Disomy 15 (UPD), Angelman syndrome or Prader Willi syndrome (if the above features are present); Pregnant women who have had a child with Uniparental Disomy 15 (UPD) need prenatal diagnosis.

3. Diagnosis of Angelman syndrome and Prader Willi . syndrome

3.1 Diagnosing Angelman's syndrome Diagnosed through characteristic manifestations: Developmental retardation, hyperactivity, or excitement, epilepsy,...; Genetic testing: Some genetic tests are done on a blood sample to detect missing chromosomes, or chromosome fragments, changes in the father (or mother's) UBE3A (Ubiquitin Protein Ligase E3A) gene. can be passed on to your baby, there is a change in the child's UBE3A gene and makes the gene inactive,... Most children with Angelman syndrome are diagnosed when they are 9 months - 6 years old (when symptoms appear). physical and behavioral are obvious).
3.2 Prader Willi syndrome Diagnosed through typical symptoms: The child has crossed eyes, rapid weight gain, behavioral abnormalities; Definitive diagnosis: Laboratory testing. Blood tests, chromosomal analysis, genes, ... can identify abnormalities in the baby's chromosomes (characterized by Prader Willi syndrome). For women who are elderly (30-35 years old or older), have had miscarriages, malformed pregnancies, stillbirths of unknown cause, have family members who have had genetic diseases, etc. Uniparental Disomy 15 (UPD) test should be performed for early detection of chromosomal disorders such as Angelman syndrome and Prader Willi syndrome,...

In addition, to prepare for a healthy pregnancy, both husband and wife should check their reproductive health 3-5 months before becoming pregnant.
The wife should:
Get vaccinated before pregnancy (especially against rubella because rubella in pregnancy is extremely dangerous ) Genetic testing to screen for genetic diseases before pregnancy Check for secondary infections In particular, women over 35 years of age, if they want to become pregnant (especially if they have never been pregnant), will have to have a very detailed health check because pregnancy at this age often problems: Ovarian failure, premature birth, higher risk of birth defects, placenta previa, preeclampsia. The husband should:
Check reproductive health, detect diseases of testicular atrophy, physiological weakness, weak sperm... Sexually transmitted diseases, especially those that cannot be cured, are extremely dangerous. Vinmec currently has many comprehensive health care programs for couples, pregnant mothers and their unborn babies, including basic pre-marital examination packages, advanced pre-marital examination packages, and maternity packages. . Vinmec has a team of experienced doctors in the fields of obstetrics and gynecology, IVF, stem cells, gene technology, capable of synchronously and comprehensively deploying the most advanced assisted reproductive techniques today.
For specific information about fertility and maternity packages at Vinmec, please contact the hospitals and clinics of Vinmec health system nationwide.

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