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Genetic and Metabolic :
Turners Syndrome

Turner syndrome or Ullrich-Turner syndrome encompasses several conditions, of which monosomy X is most common. It is a chromosomal disorder in which all or part of one of the sex chromosomes is absent (unaffected humans have 46 chromosomes, of which 2 are sex chromosomes).

 

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Surprising Molecular Pattern in Fragile X Syndrome Revealed
Researchers identified new disrupted genes and an unexpected molecular pattern, named BREACHes, associated with Fragile X Syndrome (FXS)
Likely Cause of Common Penis Birth Defect Identified
Hypospadias, the most common genital malformation in male babies is due to environmental factors, such as toxicant exposure, which alter epigenetic pr.....
Fragile X Syndrome Treatment Will be Changed by 2030
Promising pipeline drugs Zygel, zatolmilast, trofinetide, and acamprosate calcium SR are set to offer new treatment options for people with Fragile X .....
Cause Of Common Zika Virus Birth Defect Revealed
A new study has identified how Zika virus (ZIKV) causes one of the most common birth defects linked to prenatal infection, called brain calcification,.....
Link Between Fragile X Syndrome and the Fetal Brain
New study has offered fresh insights into the fetal development of our brain and the potential causes of Fragile X syndrome (FSX).

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It is a defect that occurs at the time of birth where the vessels of the heart arise from inappropriate ventricles hindering the oxygen supply to the blood... Read More
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Fallot’s tetralogy is a rare and complex birth defect of the heart. Babies born with this condition turn blue (cyanosis) due to inadequate oxygen in their blood. Know more about Fallot’s tetralogy and its treatment... Read More
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Superior canal dehiscence (SCD) results from a break in the bone above the semicircular canal, caused either by birth defects or due to a head trauma... Read More
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A structural birth defect means that a specific body part is missing or mal-formed during the embryonic development... Read More
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Solitary kidney does not pose a grave health risk but it does require additional care. Find out how solitary kidney affects one’s health and quality of life and how to live with the condition. .. Read More
Prenatal Screening Test
Prenatal screening involves various tests to assess the risk of the unborn baby to be born with a chromosomal anomaly, neural tube defect or any birth defect... Read More
Polymelia - Causes, Symptoms, Diagnosis, Treatment & Prevention
Polymelia is a rare birth defect in which a baby is born with more than the usual number of limbs. Polymelia can be prevented with proper prenatal screening... Read More
Pentalogy of Cantrell (Birth Disorder) - Causes, Diagnosis & Treatment
Pentalogy of Cantrell or thoracoabdominal syndrome is an extremely rare birth disorder involving defects in the coverings of the organs within the abdominal cavity, the heart and its covering membrane, the breastbone and diaphragm. The exact cause is unknown... Read More
Obesity during Pregnancy: Know the Risks
Women with a body mass index >30 are obese and are at a higher risk for gestational diabetes during pregnancy. Macrosomia and birth defects are risks seen in the babies... Read More



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