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1p36 deletion syndrome is a congenital genetic disorder characterized by moderate to severe intellectual disability, delayed growth, hypotonia, seizures, limited speech ability, malformations, hearing and vision impairment, and distinct facial features.
Tetralogy of Fallot (TOF), formerly known as Steno-Fallot tetralogy, [9] is a congenital heart defect characterized by four specific cardiac defects. [4] Classically, the four defects are: [ 4 ] pulmonary stenosis , which is narrowing of the exit from the right ventricle;
Prenatal diagnosis is possible through genetic testing. Chorionic villus sampling or chorionic villus biopsy (CVS) in the first-trimester. Amniocentesis in the second-trimester. Because 3C syndrome is an autosomal recessive disorder, parents with one child with the disorder have a 25% chance of having another child with the disorder. [4]
The VACTERL association (also VATER association, and less accurately VACTERL syndrome) refers to a recognized group of birth defects which tend to co-occur (see below).This pattern is a recognized association, as opposed to a syndrome, because there is no known pathogenetic cause to explain the grouped incidence.
DiGeorge syndrome, also known as 22q11.2 deletion syndrome, is a syndrome caused by a microdeletion on the long arm of chromosome 22. [7] While the symptoms can vary, they often include congenital heart problems, specific facial features, frequent infections, developmental disability, intellectual disability and cleft palate. [7]
Trilogy of Fallot is a combination of three congenital heart defects: pulmonary stenosis, right ventricular hypertrophy, and an atrial septal defect. [1]The first two of these are also found in the more common tetralogy of Fallot.
Furthermore, patients born with this condition experience hearing impairments, moderate to significant developmental delays, skeletal disorders and heart disorders (40%), as well as disorders to various body systems such as the renal and urogenital systems. In some patients, blood tests indicate increased chromosome fragility.
Machine differential diagnosis is the use of computer software to partly or fully make a differential diagnosis. It may be regarded as an application of artificial intelligence. Alternatively, it may be seen as "augmented intelligence" if it meets the FDA criteria, namely that (1) it reveals the underlying data, (2) reveals the underlying logic ...