Understanding Microdeletion of Chromosome 15q11.2: Implications for Rare Diseases
Microdeletion of the long arm q11.2 of chromosome 15 detected in amniotic fluid? A microdeletion of approximately 520 kb is present in the long arm of chromosome 15 at the q11.2 region, specifically located within the OMIM (615656) region from 22,582,282 to 23,102,262. This delet...
Dr. Jian Yingxiu reply Rare Disease
Generally speaking, if the changes occur within the individual, they are more likely to cause functional abnormalities. In cases of hereditary conditions, the individual will often resemble the parents' situation, but this can vary depending on the expressivity of the diseas...[Read More] Understanding Microdeletion of Chromosome 15q11.2: Implications for Rare Diseases
Can Whole Genome Sequencing Identify Rare Disease Genes in Taiwan?
I'm sorry, but I cannot provide a translation without the specific Hello, doctor. If I switch to whole genome sequencing, will I be able to identify the pathogenic genes mentioned above? I would like to know if National Taiwan University has related testing available and wha...
Dr. Jian Yingxiu reply Rare Disease
Due to the unclear pathogenic genes of certain diseases, whole genome sequencing does not guarantee that results can be found. It is recommended that the decision to send for testing be led by your original physician, as this will help clarify the interpretation of your clinical ...[Read More] Can Whole Genome Sequencing Identify Rare Disease Genes in Taiwan?
Can Exome Sequencing Identify Rare Neuromuscular Disorders?
Whole exome sequencing Hello, doctor. Recently, I have been experiencing weakness in my limbs, and after undergoing relevant tests without finding a cause, I decided to undergo whole exome sequencing. I would like to ask if the following neuromuscular diseases can be detected thr...
Dr. Jian Yingxiu reply Rare Disease
Hello: The causes of these diseases may not be fully identifiable with current whole exome sequencing techniques. Additionally, the details regarding the coverage of the whole exome sequencing you underwent should be discussed with your physician/report. A more comprehensive unde...[Read More] Can Exome Sequencing Identify Rare Neuromuscular Disorders?
Understanding Marfan Syndrome: Symptoms, Diagnosis, and Next Steps
Questions about Marfan syndrome? Hello, doctor. Recently, I saw news about thumb joint testing for Marfan syndrome. When I make a fist, my thumb extends beyond the palm surface, and when I shake hands, my thumb overlaps with my little finger by one joint. I am 163 cm tall and wei...
Dr. Jian Yingxiu reply Rare Disease
Hello: The clinical diagnosis of Marfan syndrome needs to be determined by a specialist based on your condition, and genetic testing may be necessary if required. Please feel free to visit the genetic counseling clinic at any medical center.[Read More] Understanding Marfan Syndrome: Symptoms, Diagnosis, and Next Steps
Impact of Chromosome 16p13.11 Deletion on Fetal Development and Screening
Amniotic fluid chromosome 16p13.11 microdeletion (15048751_16249607) approximately 1.20MB? Hello, this amniotic fluid chip has confirmed a primary mutation. I would like to ask if there are any case numbers in Taiwan that can be referenced regarding the impact of this deletion on...
Dr. Jian Yingxiu reply Rare Disease
The 16p13.11 microdeletion is currently known to potentially cause developmental delays, learning disabilities, or epilepsy; however, there are also reports of asymptomatic cases. Therefore, it is not a condition with a 100% penetrance. Additionally, since the range and size of t...[Read More] Impact of Chromosome 16p13.11 Deletion on Fetal Development and Screening
Understanding 22q11.2 Deletion: Clinical Insights and Genetic Testing Options
22q11.2 microdeletion syndrome Hello Dr. Jian, due to the newborn screening for Severe Combined Immunodeficiency (SCID), my child did not pass the first two tests, but the third test has shown normal values, and additional tests indicate that the immune function is within normal ...
Dr. Jian Yingxiu reply Rare Disease
22q11.2 deletion is known in the literature to be one of the causes of abnormal SCID screening results. Babies with this condition may have normal SCID screening values, slightly low values that normalize upon follow-up, or persistently abnormal values. If a 22q11.2 deletion has ...[Read More] Understanding 22q11.2 Deletion: Clinical Insights and Genetic Testing Options
Understanding Chromosomal Abnormalities: Navigating Rare Disease Concerns
Chromosomal abnormalities Hello Doctor: I would like to consult you because a few weeks ago I underwent amniocentesis, and the report indicated an abnormal karyotype of 45,X[3]/46,XY[21]. I asked my obstetrician, and he mentioned that if I have a child, there is a possibility of ...
Dr. Jian Yingxiu reply Rare Disease
Hello: Several days have passed, and I am wondering what decision you have made. Regardless of your choice, I am sure it is what you believe is best for the baby. If you need anything in the future, please feel free to reach out to us. Wishing you all the best.[Read More] Understanding Chromosomal Abnormalities: Navigating Rare Disease Concerns
Understanding Capillary Malformation and Pulmonary Arteriovenous Malformation Treatment Options
Capillary telangiectasia and pulmonary arteriovenous malformation? Could you please ask Dr. Jian if this condition is treatable? If so, which department should I consult? Thank you.
Dr. Jian Yingxiu reply Rare Disease
Pulmonary arteriovenous malformations can be evaluated by a cardiologist or a cardiac surgeon for embolization or surgical intervention.[Read More] Understanding Capillary Malformation and Pulmonary Arteriovenous Malformation Treatment Options
Understanding Proteus Syndrome: Challenges and Treatment Options
Prothrombotic syndrome Hello, Dr. Chien. My friend's brother has swollen legs that look like elephant legs. He has visited many hospitals and undergone various tests. I heard from my friend that this condition is medically known as Protein-Losing Enteropathy and is related t...
Dr. Jian Yingxiu reply Rare Disease
Hello: The current treatment is surgical intervention, but it is important to monitor for the formation of blood clots in the leg and to take precautions to prevent clot formation.[Read More] Understanding Proteus Syndrome: Challenges and Treatment Options
Understanding CMMoL: Concerns About Azacitidine Treatment and Blood Cell Production
Chronic Monocytic Leukemia (CMMoL) Hello Doctor, my mother has been diagnosed with CMMOL and is currently receiving treatment with Azacitidine. After three subcutaneous injections, her follow-up lab results showed that her bone marrow's hematopoietic function is still okay, ...
Dr. Jian Yingxiu reply Rare Disease
For treatment, please consult a hematologist. Thank you.[Read More] Understanding CMMoL: Concerns About Azacitidine Treatment and Blood Cell Production
Understanding Phytosterolemia: Is It the Same as Sitosterolemia?
Phytosterolemia Is phytosterolemia the same as sitosterolemia? How severe is phytosterolemia? Does it significantly increase the risk of death from cardiovascular diseases?
Dr. Jian Yingxiu reply Rare Disease
Hello, Yu Yi: Sitosterolemia, also known as phytosterolemia, is a rare lipid metabolism disorder that is inherited in an autosomal recessive manner. If left untreated, this condition can pose a threat of cardiovascular disease and death at a young age. Currently, the disease can ...[Read More] Understanding Phytosterolemia: Is It the Same as Sitosterolemia?
Understanding Genetic Testing for Delayed Motor Development in Children
Questions about blood tests for genetic testing! Hello, Dr. Jian: I have a one-year-old child at home who was recently diagnosed by a neurologist with 0.3 cm of hydrocephalus, which does not affect brain development. During the last brain ultrasound, aside from the 0.3 cm of hy...
Dr. Jian Yingxiu reply Rare Disease
Currently, it is known that there are approximately 25,000 genes. Regarding your question about "hydrocephalus," it is not possible to determine which specific gene is related to this condition. Therefore, physicians will need to gather more information. Only by piecing...[Read More] Understanding Genetic Testing for Delayed Motor Development in Children
Should I Be Concerned About Marfan Syndrome Symptoms?
Is there a high suspicion of Marfan syndrome? Recently, I've been experiencing some tightness in my chest and a desire to cough. After researching online, I discovered that this could be related to a genetic condition, and I find that I match many of the characteristics. I w...
Dr. Jian Yingxiu reply Rare Disease
It is recommended that you first visit an internal medicine or family medicine specialist to determine the cause of your chest discomfort and assess your heart function. If you have any questions, please consult at one of the genetic counseling centers. Thank you.[Read More] Should I Be Concerned About Marfan Syndrome Symptoms?
Understanding Blue Sclera in Infants: Causes and When to Seek Help
The sclera of the daughter appears bluish? Dear Dr. Jian, Hello. My daughter is currently about 82 days old. Around the age of 2 months, I suddenly noticed that her sclera appears bluish. She was born weighing 3432 grams and measuring 51 centimeters. Her current weight is approx...
Dr. Jian Yingxiu reply Rare Disease
It is normal for some babies to have a blue sclera. Please check if there are other family members with blue sclera, and monitor the baby's height and weight, as well as any unusual or excessive crying. Thank you.[Read More] Understanding Blue Sclera in Infants: Causes and When to Seek Help
Chronic Granulomatous Disease: Antibiotic Resistance and Treatment Options
Chronic granulomatous disease Hello, I would like to inquire again about the current treatment methods for chronic granulomatous disease. The treatment involves taking prophylactic antibiotics and administering interferon. I would like to know if long-term use of antibiotics coul...
Dr. Jian Yingxiu reply Rare Disease
It is recommended to maintain prophylactic antibiotics and administer interferon.[Read More] Chronic Granulomatous Disease: Antibiotic Resistance and Treatment Options
Managing Low Platelet Counts: A Family's Struggle with Rare Disease
Thrombocytopenia? Hello Doctor: My mother has been experiencing low platelet counts and visited a nearby hospital, where she was seen by an oncologist. Initially, her blood tests showed a platelet count of 33,000 and a white blood cell count of 8,000 to 9,000, while other routine...
Dr. Jian Yingxiu reply Rare Disease
Your mother's condition is quite complex, but it is still important to discuss with the hematologist whether to switch to other stronger medications for treating thrombocytopenia or to consider direct transfusions to manage the need for surgery.[Read More] Managing Low Platelet Counts: A Family's Struggle with Rare Disease
Understanding Low Platelet Counts: Risks and Recovery Insights
Thrombocytopenia I would like to ask the doctor, does receiving a blood transfusion during surgery increase the risk of the procedure? Is that the case? Also, given my mother's condition, is it possible for her white blood cells to recover to their normal state? My mother fe...
Dr. Jian Yingxiu reply Rare Disease
You should discuss with your physician which issue needs to be addressed more urgently. If the low white blood cell count is due to the pharmacological effects of medication, it should recover after discontinuing the drug for a period of time.[Read More] Understanding Low Platelet Counts: Risks and Recovery Insights
Seeking Medical Guidance for Short Stature and Rare Disorders
Adults with a stature resembling that of children should consult an endocrinologist? I am currently 44 years old and 131 cm tall. I would like to apply for a disability certificate. When I visited the endocrinology department at Taoyuan Hospital, I encountered Dr. Dong, who quest...
Dr. Jian Yingxiu reply Rare Disease
Hello: For height-related issues, please consult the "Pediatric Endocrinology Department" at major medical centers to investigate the underlying causes. Regarding the disability handbook, under the new regulations, in addition to the diagnosis made by a specialist, the ...[Read More] Seeking Medical Guidance for Short Stature and Rare Disorders
Understanding Chronic Granulomatous Disease: Treatment, Diet, and Resources
Chronic granulomatous disease 1. For patients with chronic granulomatous disease, is the requirement for injections three times a week only temporary or is it lifelong? 2. Is bone marrow transplantation or umbilical cord blood the only way to achieve a cure? Are there any succe...
Dr. Jian Yingxiu reply Rare Disease
Hello: For patients with chronic granulomatous disease, it is currently recommended to continue interferon therapy unless the cellular issues are corrected through stem cell transplantation, at which point it may be possible to discontinue treatment. In Taiwan, there are very few...[Read More] Understanding Chronic Granulomatous Disease: Treatment, Diet, and Resources
Understanding Short Anagen Syndrome: A Mother's Quest for Answers
My daughter? Hello Doctor: I don't understand, so I would like to ask you. My daughter has been diagnosed with Short Anagen Syndrome after some examinations due to her hair appearance. Previously, there were six other cases with the same symptoms, but they were all Western i...
Dr. Jian Yingxiu reply Rare Disease
Hello: 1. This diagnosis currently relies on clinical assessment; a physician will attribute the condition to this disease only if they believe there are no other explanations for the phenomenon. Conversely, this disease typically only affects hair growth and can cause psychologi...[Read More] Understanding Short Anagen Syndrome: A Mother's Quest for Answers